Canonical Allele Identifier: CA375309080

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134388678G>C (hg19) ; chr9:g.131513291G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131513291G>C , CM000671.2:g.131513291G>C	GRCh38
NC_000009.11:g.134388678G>C , CM000671.1:g.134388678G>C	GRCh37
NC_000009.10:g.133378499G>C	NCBI36
NG_008896.1:g.15390G>C
NG_008896.2:g.15390G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000341012.13:c.973G>C	ENSP00000343034.7:p.Val325Leu
ENST00000404875.7:n.1675G>C
ENST00000423007.6:c.1192G>C	ENSP00000404119.2:p.Val398Leu
ENST00000677295.2:c.*1479G>C	ENSP00000504346.2:n.*1479G>C
ENST00000678264.2:c.*1318G>C	ENSP00000503157.2:n.*1318G>C
ENST00000682070.1:n.1600G>C
ENST00000682813.1:n.1400G>C
ENST00000683392.1:n.3882G>C
ENST00000683712.1:n.1540G>C
ENST00000683900.1:n.3035G>C
ENST00000684062.1:n.1801G>C
ENST00000684579.1:n.2981G>C
ENST00000341012.12:c.973G>C	ENSP00000343034.7:p.Val325Leu
ENST00000372220.5:c.4G>C	ENSP00000361294.5:p.Val2Leu
ENST00000372228.9:c.1201G>C	ENSP00000361302.3:p.Val401Leu
ENST00000402686.8:c.1135G>C MANE Select	ENSP00000385797.4:p.Val379Leu
ENST00000676640.1:c.1135G>C	ENSP00000503281.1:p.Val379Leu
ENST00000676803.1:c.310G>C	ENSP00000503093.1:p.Val104Leu
ENST00000676835.1:c.*350G>C	ENSP00000502911.1:n.*350G>C
ENST00000677029.1:c.679G>C	ENSP00000502936.1:p.Val227Leu
ENST00000677099.1:c.*845G>C	ENSP00000504553.1:n.*845G>C
ENST00000677216.1:c.784G>C	ENSP00000503772.1:p.Val262Leu
ENST00000677293.1:c.310G>C	ENSP00000504278.1:p.Val104Leu
ENST00000677295.1:c.*512G>C	ENSP00000504346.1:n.*512G>C
ENST00000677444.1:c.941G>C
ENST00000677586.1:n.616G>C
ENST00000677626.1:c.824+1824G>C	ENSP00000503552.1:n.824+1824G>C
ENST00000677677.1:n.1095G>C
ENST00000677853.1:c.*143G>C	ENSP00000503488.1:n.*143G>C
ENST00000677944.1:c.397G>C
ENST00000678264.1:c.*512G>C	ENSP00000503157.1:n.*512G>C
ENST00000678303.1:c.1045G>C	ENSP00000503696.1:p.Val349Leu
ENST00000678366.1:c.*1384G>C	ENSP00000504353.1:n.*1384G>C
ENST00000678546.1:c.*1080G>C	ENSP00000503062.1:n.*1080G>C
ENST00000678548.1:c.*1207G>C	ENSP00000503934.1:n.*1207G>C
ENST00000678626.1:n.832G>C
ENST00000678733.1:c.256+1155G>C
ENST00000678739.1:c.*1461G>C	ENSP00000503806.1:n.*1461G>C
ENST00000678795.1:n.222G>C
ENST00000678833.1:c.*582G>C	ENSP00000503893.1:n.*582G>C
ENST00000678942.1:c.315G>C	ENSP00000504690.1:n.315G>C
ENST00000679023.1:c.973G>C	ENSP00000503718.1:p.Val325Leu
ENST00000679073.1:c.513G>C	ENSP00000504356.1:n.513G>C
ENST00000679076.1:c.754G>C
ENST00000679111.1:c.1135G>C	ENSP00000504257.1:p.Val379Leu
ENST00000679189.1:c.784G>C	ENSP00000503356.1:p.Val262Leu
ENST00000341012.11:c.973G>C	ENSP00000343034.7:p.Val325Leu
ENST00000372228.7:c.1201G>C	ENSP00000361302.3:p.Val401Leu
ENST00000402686.7:c.1135G>C	ENSP00000385797.3:p.Val379Leu
ENST00000404875.6:c.784G>C	ENSP00000384531.2:p.Val262Leu
ENST00000423007.5:c.1135G>C	ENSP00000404119.1:p.Val379Leu
ENST00000441334.5:c.850G>C	ENSP00000395060.1:p.Val284Leu
ENST00000462375.5:n.961G>C
ENST00000485278.5:n.1690G>C
NM_001077365.1:c.1135G>C	NP_001070833.1:p.Val379Leu
NM_001077366.1:c.973G>C	NP_001070834.1:p.Val325Leu
NM_001136113.1:c.1135G>C	NP_001129585.1:p.Val379Leu
NM_001136114.1:c.784G>C	NP_001129586.1:p.Val262Leu
NM_007171.3:c.1201G>C	NP_009102.3:p.Val401Leu
XM_005272156.1:c.1201G>C	XP_005272213.1:p.Val401Leu
XM_005272158.1:c.1039G>C	XP_005272215.1:p.Val347Leu
XM_005272159.1:c.850G>C	XP_005272216.1:p.Val284Leu
XM_005272162.1:c.4G>C	XP_005272219.1:p.Val2Leu
XM_006716932.1:c.850G>C	XP_006716995.1:p.Val284Leu
XM_011518140.1:c.1054G>C	XP_011516442.1:p.Val352Leu
XM_011518141.1:c.988G>C	XP_011516443.1:p.Val330Leu
XM_011518142.1:c.892G>C	XP_011516444.1:p.Val298Leu
XM_011518143.1:c.886G>C	XP_011516445.1:p.Val296Leu
XM_011518144.1:c.1201G>C	XP_011516446.1:p.Val401Leu
XM_011518145.1:c.745G>C	XP_011516447.1:p.Val249Leu
XM_011518146.1:c.886G>C	XP_011516448.1:p.Val296Leu
XR_929703.1:n.1377G>C
NM_001353193.1:c.1201G>C	NP_001340122.1:p.Val401Leu
NM_001353194.1:c.973G>C	NP_001340123.1:p.Val325Leu
NM_001353195.1:c.784G>C	NP_001340124.1:p.Val262Leu
NM_001353196.1:c.1045G>C	NP_001340125.1:p.Val349Leu
NM_001353197.1:c.1039G>C	NP_001340126.1:p.Val347Leu
NM_001353198.1:c.1039G>C	NP_001340127.1:p.Val347Leu
NM_001353199.1:c.850G>C	NP_001340128.1:p.Val284Leu
NM_001353200.1:c.679G>C	NP_001340129.1:p.Val227Leu
NR_148391.1:n.1185G>C
NR_148392.1:n.1403G>C
NR_148393.1:n.1185G>C
NR_148394.1:n.1078G>C
NR_148395.1:n.1337G>C
NR_148396.1:n.971G>C
NR_148397.1:n.1235G>C
NR_148398.1:n.1190G>C
NR_148399.1:n.1577G>C
NR_148400.1:n.1176G>C
XM_005272162.3:c.4G>C	XP_005272219.1:p.Val2Leu
XM_006716932.2:c.850G>C	XP_006716995.1:p.Val284Leu
XM_011518140.2:c.1054G>C	XP_011516442.1:p.Val352Leu
XM_011518141.2:c.988G>C	XP_011516443.1:p.Val330Leu
XM_011518142.2:c.892G>C	XP_011516444.1:p.Val298Leu
XM_011518143.2:c.886G>C	XP_011516445.1:p.Val296Leu
XM_011518145.2:c.745G>C	XP_011516447.1:p.Val249Leu
XM_017014205.2:c.4G>C	XP_016869694.1:p.Val2Leu
XM_024447380.1:c.4G>C	XP_024303148.1:p.Val2Leu
XM_024447381.1:c.310G>C	XP_024303149.1:p.Val104Leu
XM_024447382.1:c.4G>C	XP_024303150.1:p.Val2Leu
XR_001746160.2:n.1305G>C
XR_001746162.2:n.1371G>C
XR_001746164.1:n.1088G>C
XR_001746166.2:n.1522G>C
NM_001077365.2:c.1135G>C MANE Select	NP_001070833.1:p.Val379Leu
NM_001077366.2:c.973G>C	NP_001070834.1:p.Val325Leu
NM_001136113.2:c.1135G>C	NP_001129585.1:p.Val379Leu
NM_001136114.2:c.784G>C	NP_001129586.1:p.Val262Leu
NM_001353193.2:c.1201G>C	NP_001340122.2:p.Val401Leu
NM_001353194.2:c.973G>C	NP_001340123.1:p.Val325Leu
NM_001353195.2:c.784G>C	NP_001340124.1:p.Val262Leu
NM_001353196.2:c.1045G>C	NP_001340125.1:p.Val349Leu
NM_001353197.2:c.1039G>C	NP_001340126.2:p.Val347Leu
NM_001353198.2:c.1039G>C	NP_001340127.2:p.Val347Leu
NM_001353199.2:c.850G>C	NP_001340128.2:p.Val284Leu
NM_001353200.2:c.679G>C	NP_001340129.1:p.Val227Leu
NM_001374689.1:c.1123G>C	NP_001361618.1:p.Val375Leu
NM_001374690.1:c.1135G>C	NP_001361619.1:p.Val379Leu
NM_001374691.1:c.784G>C	NP_001361620.1:p.Val262Leu
NM_001374692.1:c.784G>C	NP_001361621.1:p.Val262Leu
NM_001374693.1:c.824+1824G>C	NP_001361622.1:n.824+1824G>C
NM_001374695.1:c.745G>C	NP_001361624.1:p.Val249Leu
NM_007171.4:c.1201G>C	NP_009102.4:p.Val401Leu
NR_148391.2:n.1169G>C
NR_148392.2:n.1387G>C
NR_148393.2:n.1169G>C
NR_148394.2:n.1062G>C
NR_148395.2:n.1321G>C
NR_148396.2:n.955G>C
NR_148397.2:n.1219G>C
NR_148398.2:n.1174G>C
NR_148399.2:n.1561G>C
NR_148400.2:n.1160G>C