Canonical Allele Identifier: CA470526433

Gene: KCNMA1

Linked Data

• MyVariant Identifiers: chr10:g.78850205C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.77090447C>G , CM000672.2:g.77090447C>G	GRCh38
NC_000010.10:g.78850205C>G , CM000672.1:g.78850205C>G	GRCh37
NC_000010.9:g.78520211C>G	NCBI36
NG_012270.1:g.552373G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000707137.1:c.911G>C
ENST00000707138.1:c.679G>C
ENST00000286627.10:c.1287G>C	ENSP00000286627.5:p.Leu429=
ENST00000286628.14:c.1287G>C MANE Select	ENSP00000286628.8:p.Leu429=
ENST00000372403.9:c.1092G>C	ENSP00000361480.4:p.Leu364=
ENST00000372408.7:c.1092G>C	ENSP00000361485.3:p.Leu364=
ENST00000372421.10:c.1208G>C
ENST00000372437.6:c.1098G>C	ENSP00000361514.2:p.Leu366=
ENST00000372440.6:c.1287G>C	ENSP00000361517.2:p.Leu429=
ENST00000372443.6:c.1287G>C	ENSP00000361520.2:p.Leu429=
ENST00000404771.8:c.1287G>C	ENSP00000385717.3:p.Leu429=
ENST00000404857.6:c.1092G>C	ENSP00000385806.3:p.Leu364=
ENST00000434208.6:c.1287G>C	ENSP00000402150.2:p.Leu429=
ENST00000457953.6:c.1287G>C	ENSP00000396608.2:p.Leu429=
ENST00000604624.6:c.870G>C	ENSP00000473714.2:p.Leu290=
ENST00000626620.3:c.1287G>C	ENSP00000485867.1:p.Leu429=
ENST00000637862.2:c.690G>C	ENSP00000490881.2:p.Leu230=
ENST00000638203.1:c.1287G>C	ENSP00000491123.1:p.Leu429=
ENST00000638223.1:c.1287G>C	ENSP00000492492.1:p.Leu429=
ENST00000638249.1:c.980G>C
ENST00000638252.1:c.1092G>C	ENSP00000492178.1:p.Leu364=
ENST00000638283.1:c.909G>C	ENSP00000491300.1:p.Leu303=
ENST00000638306.1:c.1287G>C	ENSP00000491008.1:p.Leu429=
ENST00000638351.1:c.1287G>C	ENSP00000491156.1:p.Leu429=
ENST00000638506.1:c.1358G>C	ENSP00000492740.1:n.1358G>C
ENST00000638514.1:c.1419G>C	ENSP00000491840.1:p.Leu473=
ENST00000638531.1:c.-232G>C	ENSP00000491374.1:n.-232G>C
ENST00000638575.1:c.1287G>C	ENSP00000492049.1:p.Leu429=
ENST00000638606.1:c.1287G>C	ENSP00000491981.1:p.Leu429=
ENST00000638632.1:n.799G>C
ENST00000638751.1:c.703G>C	ENSP00000492172.1:n.703G>C
ENST00000638754.1:c.909G>C	ENSP00000491166.1:p.Leu303=
ENST00000638759.1:c.1287G>C	ENSP00000492632.1:p.Leu429=
ENST00000638848.1:c.1287G>C	ENSP00000492414.1:p.Leu429=
ENST00000638895.1:c.1243G>C
ENST00000638991.1:c.1287G>C	ENSP00000490978.1:p.Leu429=
ENST00000638999.1:n.451G>C
ENST00000639069.1:n.911G>C
ENST00000639090.1:c.1287G>C	ENSP00000491673.1:p.Leu429=
ENST00000639120.1:c.1287G>C	ENSP00000492236.1:p.Leu429=
ENST00000639205.1:c.1092G>C	ENSP00000492718.1:p.Leu364=
ENST00000639344.1:c.1139G>C
ENST00000639370.1:c.1213G>C
ENST00000639406.1:c.1287G>C	ENSP00000491732.1:p.Leu429=
ENST00000639483.1:c.1195G>C	ENSP00000492406.1:p.Ala399Pro
ENST00000639486.1:c.1287G>C	ENSP00000492005.1:p.Leu429=
ENST00000639489.1:c.1287G>C	ENSP00000491927.1:p.Leu429=
ENST00000639498.1:c.1092G>C	ENSP00000492835.1:p.Leu364=
ENST00000639544.1:c.1287G>C	ENSP00000492075.1:p.Leu429=
ENST00000639591.1:c.1287G>C	ENSP00000492793.1:p.Leu429=
ENST00000639601.1:c.1287G>C	ENSP00000492806.1:p.Leu429=
ENST00000639691.1:c.446G>C
ENST00000639730.1:c.644G>C
ENST00000639823.1:c.1092G>C	ENSP00000490982.1:p.Leu364=
ENST00000639851.1:n.1424G>C
ENST00000639913.1:c.1287G>C	ENSP00000492241.1:p.Leu429=
ENST00000639968.1:c.*110G>C	ENSP00000491723.1:n.*110G>C
ENST00000639995.1:c.1107G>C	ENSP00000491902.1:p.Leu369=
ENST00000640029.1:c.1092G>C	ENSP00000491463.1:p.Leu364=
ENST00000640093.1:c.1184G>C	ENSP00000492224.1:n.1184G>C
ENST00000640141.1:c.1287G>C	ENSP00000491418.1:p.Leu429=
ENST00000640182.1:c.1287G>C	ENSP00000492510.1:p.Leu429=
ENST00000640353.1:c.907G>C
ENST00000640386.1:c.1024G>C	ENSP00000491313.1:n.1024G>C
ENST00000640523.1:c.1287G>C	ENSP00000491795.1:p.Leu429=
ENST00000640570.1:n.889G>C
ENST00000640605.1:c.1287G>C	ENSP00000491435.1:p.Leu429=
ENST00000640626.1:c.930G>C	ENSP00000491545.1:p.Leu310=
ENST00000640632.1:c.-228G>C	ENSP00000492854.1:n.-228G>C
ENST00000640773.1:c.1213G>C
ENST00000640807.1:c.1125G>C	ENSP00000491555.1:p.Leu375=
ENST00000640834.1:c.1287G>C	ENSP00000491920.1:p.Leu429=
ENST00000640934.1:c.1092G>C	ENSP00000491539.1:p.Leu364=
ENST00000640969.1:c.1287G>C	ENSP00000492200.1:p.Leu429=
ENST00000286627.9:c.1287G>C	ENSP00000286627.5:p.Leu429=
ENST00000286628.12:c.1287G>C	ENSP00000286628.8:p.Leu429=
ENST00000354353.9:c.783G>C	ENSP00000346321.6:p.Leu261=
ENST00000372403.8:c.1139G>C
ENST00000372408.6:c.1098G>C	ENSP00000361485.2:p.Leu366=
ENST00000372421.9:c.1207G>C
ENST00000372437.5:c.1092G>C	ENSP00000361514.1:p.Leu364=
ENST00000372440.5:c.1287G>C	ENSP00000361517.1:p.Leu429=
ENST00000372443.5:c.1287G>C	ENSP00000361520.1:p.Leu429=
ENST00000404771.7:c.1287G>C	ENSP00000385717.3:p.Leu429=
ENST00000404857.5:c.783G>C	ENSP00000385806.2:p.Leu261=
ENST00000406533.7:c.783G>C	ENSP00000385552.4:p.Leu261=
ENST00000434208.5:c.322G>C
ENST00000457953.5:c.1209G>C	ENSP00000396608.1:p.Leu403=
ENST00000604624.5:c.870G>C	ENSP00000473714.1:p.Leu290=
ENST00000626620.2:c.1287G>C	ENSP00000485867.1:p.Leu429=
NM_001014797.2:c.1287G>C	NP_001014797.1:p.Leu429=
NM_001161352.1:c.1287G>C	NP_001154824.1:p.Leu429=
NM_001161353.1:c.1287G>C	NP_001154825.1:p.Leu429=
NM_001271518.1:c.1125G>C	NP_001258447.1:p.Leu375=
NM_001271519.1:c.1287G>C	NP_001258448.1:p.Leu429=
NM_002247.3:c.1287G>C	NP_002238.2:p.Leu429=
XM_005269776.2:c.1287G>C	XP_005269833.1:p.Leu429=
XM_005269778.1:c.1287G>C	XP_005269835.1:p.Leu429=
XM_005269781.1:c.1287G>C	XP_005269838.1:p.Leu429=
XM_005269787.2:c.1287G>C	XP_005269844.1:p.Leu429=
XM_005269789.1:c.1287G>C	XP_005269846.1:p.Leu429=
XM_005269792.1:c.1287G>C	XP_005269849.1:p.Leu429=
XM_005269796.1:c.1287G>C	XP_005269853.1:p.Leu429=
XM_005269797.1:c.1287G>C	XP_005269854.1:p.Leu429=
XM_006717826.1:c.1287G>C	XP_006717889.1:p.Leu429=
XM_011539773.1:c.1419G>C	XP_011538075.1:p.Leu473=
XM_011539774.1:c.1419G>C	XP_011538076.1:p.Leu473=
XM_011539775.1:c.1419G>C	XP_011538077.1:p.Leu473=
XM_011539776.1:c.1419G>C	XP_011538078.1:p.Leu473=
XM_011539777.1:c.1287G>C	XP_011538079.1:p.Leu429=
XM_011539778.1:c.1287G>C	XP_011538080.1:p.Leu429=
XM_011539779.1:c.1419G>C	XP_011538081.1:p.Leu473=
XM_011539780.1:c.1287G>C	XP_011538082.1:p.Leu429=
XM_011539781.1:c.1419G>C	XP_011538083.1:p.Leu473=
XM_011539782.1:c.1419G>C	XP_011538084.1:p.Leu473=
XM_011539783.1:c.1287G>C	XP_011538085.1:p.Leu429=
XM_011539784.1:c.1419G>C	XP_011538086.1:p.Leu473=
XM_011539785.1:c.1287G>C	XP_011538087.1:p.Leu429=
NM_001322829.1:c.1287G>C	NP_001309758.1:p.Leu429=
NM_001322830.1:c.1287G>C	NP_001309759.1:p.Leu429=
NM_001322832.1:c.1287G>C	NP_001309761.1:p.Leu429=
NM_001322835.1:c.1287G>C	NP_001309764.1:p.Leu429=
NM_001322836.1:c.1287G>C	NP_001309765.1:p.Leu429=
NM_001322837.1:c.1287G>C	NP_001309766.1:p.Leu429=
NM_001322838.1:c.747G>C	NP_001309767.1:p.Leu249=
XM_005269776.4:c.1287G>C	XP_005269833.1:p.Leu429=
XM_005269778.2:c.1287G>C	XP_005269835.1:p.Leu429=
XM_005269781.2:c.1287G>C	XP_005269838.1:p.Leu429=
XM_005269787.4:c.1287G>C	XP_005269844.1:p.Leu429=
XM_005269789.2:c.1287G>C	XP_005269846.1:p.Leu429=
XM_005269792.2:c.1287G>C	XP_005269849.1:p.Leu429=
XM_005269796.2:c.1287G>C	XP_005269853.1:p.Leu429=
XM_006717826.2:c.1287G>C	XP_006717889.1:p.Leu429=
XM_011539773.2:c.1419G>C	XP_011538075.1:p.Leu473=
XM_011539774.2:c.1419G>C	XP_011538076.1:p.Leu473=
XM_011539775.2:c.1419G>C	XP_011538077.1:p.Leu473=
XM_011539777.2:c.1287G>C	XP_011538079.1:p.Leu429=
XM_011539778.2:c.1287G>C	XP_011538080.1:p.Leu429=
XM_011539779.2:c.1419G>C	XP_011538081.1:p.Leu473=
XM_011539780.2:c.1287G>C	XP_011538082.1:p.Leu429=
XM_011539781.3:c.1419G>C	XP_011538083.1:p.Leu473=
XM_011539782.2:c.1419G>C	XP_011538084.1:p.Leu473=
XM_011539783.2:c.1287G>C	XP_011538085.1:p.Leu429=
XM_011539784.2:c.1419G>C	XP_011538086.1:p.Leu473=
XM_011539785.2:c.1287G>C	XP_011538087.1:p.Leu429=
XM_017016207.2:c.1419G>C	XP_016871696.1:p.Leu473=
XM_017016208.2:c.1419G>C	XP_016871697.1:p.Leu473=
XM_017016209.2:c.1419G>C	XP_016871698.1:p.Leu473=
XM_017016210.2:c.1419G>C	XP_016871699.1:p.Leu473=
XM_017016211.2:c.1419G>C	XP_016871700.1:p.Leu473=
XM_017016212.2:c.1419G>C	XP_016871701.1:p.Leu473=
XM_017016213.2:c.1419G>C	XP_016871702.1:p.Leu473=
XM_017016214.2:c.1419G>C	XP_016871703.1:p.Leu473=
XM_017016215.2:c.1287G>C	XP_016871704.1:p.Leu429=
XM_017016217.1:c.1419G>C	XP_016871706.1:p.Leu473=
XM_017016218.1:c.633G>C	XP_016871707.1:p.Leu211=
XM_017016219.2:c.1419G>C	XP_016871708.1:p.Leu473=
XM_017016222.2:c.1287G>C	XP_016871711.2:p.Leu429=
XM_017016223.1:c.747G>C	XP_016871712.1:p.Leu249=
XM_024447984.1:c.1287G>C	XP_024303752.1:p.Leu429=
XM_024447985.1:c.1287G>C	XP_024303753.1:p.Leu429=
XM_024447986.1:c.813G>C	XP_024303754.1:p.Leu271=
XM_024447987.1:c.1287G>C	XP_024303755.1:p.Leu429=
XM_024447988.1:c.1287G>C	XP_024303756.1:p.Leu429=
XM_024447989.1:c.1287G>C	XP_024303757.1:p.Leu429=
XM_024447990.1:c.1287G>C	XP_024303758.1:p.Leu429=
NM_001161352.2:c.1287G>C MANE Select	NP_001154824.1:p.Leu429=
NM_001014797.3:c.1287G>C	NP_001014797.1:p.Leu429=
NM_001161353.2:c.1287G>C	NP_001154825.1:p.Leu429=
NM_001271518.2:c.1125G>C	NP_001258447.1:p.Leu375=
NM_001271519.2:c.1287G>C	NP_001258448.1:p.Leu429=
NM_001322829.2:c.1287G>C	NP_001309758.1:p.Leu429=
NM_001322830.2:c.1287G>C	NP_001309759.1:p.Leu429=
NM_001322832.2:c.1287G>C	NP_001309761.1:p.Leu429=
NM_001322835.2:c.1287G>C	NP_001309764.1:p.Leu429=
NM_001322836.2:c.1287G>C	NP_001309765.1:p.Leu429=
NM_001322837.2:c.1287G>C	NP_001309766.1:p.Leu429=
NM_002247.4:c.1287G>C	NP_002238.2:p.Leu429=
NM_001322838.2:c.747G>C	NP_001309767.1:p.Leu249=