Canonical Allele Identifier: CA375311750

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134394237A>C (hg19) ; chr9:g.131518850A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131518850A>C , CM000671.2:g.131518850A>C	GRCh38
NC_000009.11:g.134394237A>C , CM000671.1:g.134394237A>C	GRCh37
NC_000009.10:g.133384058A>C	NCBI36
NG_008896.1:g.20949A>C
NG_008896.2:g.20949A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1217A>C	ENSP00000343034.7:p.His406Pro
ENST00000404875.7:n.1919A>C
ENST00000423007.6:c.1436A>C	ENSP00000404119.2:p.His479Pro
ENST00000677295.2:c.*1723A>C	ENSP00000504346.2:n.*1723A>C
ENST00000678264.2:c.*1562A>C	ENSP00000503157.2:n.*1562A>C
ENST00000682070.1:n.1844A>C
ENST00000682539.1:c.317A>C
ENST00000682813.1:n.1783A>C
ENST00000683392.1:n.4126A>C
ENST00000683712.1:n.1784A>C
ENST00000683900.1:n.3279A>C
ENST00000684062.1:n.2045A>C
ENST00000684579.1:n.3225A>C
ENST00000684679.1:n.606A>C
ENST00000341012.12:c.1217A>C	ENSP00000343034.7:p.His406Pro
ENST00000372220.5:c.248A>C	ENSP00000361294.5:p.His83Pro
ENST00000372228.9:c.1445A>C	ENSP00000361302.3:p.His482Pro
ENST00000402686.8:c.1379A>C MANE Select	ENSP00000385797.4:p.His460Pro
ENST00000676640.1:c.1379A>C	ENSP00000503281.1:p.His460Pro
ENST00000676803.1:c.554A>C	ENSP00000503093.1:p.His185Pro
ENST00000676835.1:c.*594A>C	ENSP00000502911.1:n.*594A>C
ENST00000677029.1:c.923A>C	ENSP00000502936.1:p.His308Pro
ENST00000677099.1:c.*1089A>C	ENSP00000504553.1:n.*1089A>C
ENST00000677216.1:c.1028A>C	ENSP00000503772.1:p.His343Pro
ENST00000677221.1:n.404A>C
ENST00000677295.1:c.*756A>C	ENSP00000504346.1:n.*756A>C
ENST00000677444.1:c.1324A>C
ENST00000677586.1:n.860A>C
ENST00000677626.1:c.1028A>C	ENSP00000503552.1:p.His343Pro
ENST00000677677.1:n.1339A>C
ENST00000677853.1:c.*387A>C	ENSP00000503488.1:n.*387A>C
ENST00000678202.1:n.538A>C
ENST00000678264.1:c.*756A>C	ENSP00000503157.1:n.*756A>C
ENST00000678303.1:c.1289A>C	ENSP00000503696.1:p.His430Pro
ENST00000678366.1:c.*1628A>C	ENSP00000504353.1:n.*1628A>C
ENST00000678546.1:c.*1324A>C	ENSP00000503062.1:n.*1324A>C
ENST00000678548.1:c.*1451A>C	ENSP00000503934.1:n.*1451A>C
ENST00000678626.1:n.1215A>C
ENST00000678733.1:c.460A>C
ENST00000678739.1:c.*1705A>C	ENSP00000503806.1:n.*1705A>C
ENST00000678833.1:c.*826A>C	ENSP00000503893.1:n.*826A>C
ENST00000679023.1:c.1217A>C	ENSP00000503718.1:p.His406Pro
ENST00000679076.1:c.998A>C
ENST00000679111.1:c.*135A>C	ENSP00000504257.1:n.*135A>C
ENST00000679189.1:c.1028A>C	ENSP00000503356.1:p.His343Pro
ENST00000341012.11:c.1217A>C	ENSP00000343034.7:p.His406Pro
ENST00000372220.4:c.242A>C	ENSP00000361294.4:p.His81Pro
ENST00000372228.7:c.1445A>C	ENSP00000361302.3:p.His482Pro
ENST00000402686.7:c.1379A>C	ENSP00000385797.3:p.His460Pro
ENST00000404875.6:c.1028A>C	ENSP00000384531.2:p.His343Pro
ENST00000423007.5:c.1379A>C	ENSP00000404119.1:p.His460Pro
ENST00000467848.1:n.83A>C
ENST00000485278.5:n.1934A>C
NM_001077365.1:c.1379A>C	NP_001070833.1:p.His460Pro
NM_001077366.1:c.1217A>C	NP_001070834.1:p.His406Pro
NM_001136113.1:c.1379A>C	NP_001129585.1:p.His460Pro
NM_001136114.1:c.1028A>C	NP_001129586.1:p.His343Pro
NM_007171.3:c.1445A>C	NP_009102.3:p.His482Pro
XM_005272156.1:c.1445A>C	XP_005272213.1:p.His482Pro
XM_005272158.1:c.1283A>C	XP_005272215.1:p.His428Pro
XM_005272159.1:c.1094A>C	XP_005272216.1:p.His365Pro
XM_005272162.1:c.248A>C	XP_005272219.1:p.His83Pro
XM_006716932.1:c.1094A>C	XP_006716995.1:p.His365Pro
XM_011518140.1:c.1298A>C	XP_011516442.1:p.His433Pro
XM_011518141.1:c.1232A>C	XP_011516443.1:p.His411Pro
XM_011518142.1:c.1136A>C	XP_011516444.1:p.His379Pro
XM_011518143.1:c.1130A>C	XP_011516445.1:p.His377Pro
XM_011518144.1:c.*135A>C	XP_011516446.1:n.*135A>C
XM_011518145.1:c.989A>C	XP_011516447.1:p.His330Pro
XM_011518146.1:c.*135A>C	XP_011516448.1:n.*135A>C
XM_011518147.1:c.317A>C	XP_011516449.1:p.His106Pro
XR_929703.1:n.1621A>C
NM_001353193.1:c.1445A>C	NP_001340122.1:p.His482Pro
NM_001353194.1:c.1217A>C	NP_001340123.1:p.His406Pro
NM_001353195.1:c.1028A>C	NP_001340124.1:p.His343Pro
NM_001353196.1:c.1289A>C	NP_001340125.1:p.His430Pro
NM_001353197.1:c.1283A>C	NP_001340126.1:p.His428Pro
NM_001353198.1:c.1283A>C	NP_001340127.1:p.His428Pro
NM_001353199.1:c.1094A>C	NP_001340128.1:p.His365Pro
NM_001353200.1:c.923A>C	NP_001340129.1:p.His308Pro
NR_148391.1:n.1429A>C
NR_148392.1:n.1647A>C
NR_148393.1:n.1568A>C
NR_148394.1:n.1322A>C
NR_148395.1:n.1720A>C
NR_148396.1:n.1354A>C
NR_148397.1:n.1479A>C
NR_148398.1:n.1434A>C
NR_148399.1:n.1960A>C
NR_148400.1:n.1559A>C
XM_005272162.3:c.248A>C	XP_005272219.1:p.His83Pro
XM_006716932.2:c.1094A>C	XP_006716995.1:p.His365Pro
XM_011518140.2:c.1298A>C	XP_011516442.1:p.His433Pro
XM_011518141.2:c.1232A>C	XP_011516443.1:p.His411Pro
XM_011518142.2:c.1136A>C	XP_011516444.1:p.His379Pro
XM_011518143.2:c.1130A>C	XP_011516445.1:p.His377Pro
XM_011518145.2:c.989A>C	XP_011516447.1:p.His330Pro
XM_017014205.2:c.248A>C	XP_016869694.1:p.His83Pro
XM_024447380.1:c.248A>C	XP_024303148.1:p.His83Pro
XM_024447381.1:c.554A>C	XP_024303149.1:p.His185Pro
XM_024447382.1:c.248A>C	XP_024303150.1:p.His83Pro
XR_001746160.2:n.1549A>C
XR_001746162.2:n.1754A>C
XR_001746164.1:n.1471A>C
XR_001746166.2:n.1766A>C
NM_001077365.2:c.1379A>C MANE Select	NP_001070833.1:p.His460Pro
NM_001077366.2:c.1217A>C	NP_001070834.1:p.His406Pro
NM_001136113.2:c.1379A>C	NP_001129585.1:p.His460Pro
NM_001136114.2:c.1028A>C	NP_001129586.1:p.His343Pro
NM_001353193.2:c.1445A>C	NP_001340122.2:p.His482Pro
NM_001353194.2:c.1217A>C	NP_001340123.1:p.His406Pro
NM_001353195.2:c.1028A>C	NP_001340124.1:p.His343Pro
NM_001353196.2:c.1289A>C	NP_001340125.1:p.His430Pro
NM_001353197.2:c.1283A>C	NP_001340126.2:p.His428Pro
NM_001353198.2:c.1283A>C	NP_001340127.2:p.His428Pro
NM_001353199.2:c.1094A>C	NP_001340128.2:p.His365Pro
NM_001353200.2:c.923A>C	NP_001340129.1:p.His308Pro
NM_001374689.1:c.1367A>C	NP_001361618.1:p.His456Pro
NM_001374690.1:c.1365+313A>C	NP_001361619.1:n.1365+313A>C
NM_001374691.1:c.1028A>C	NP_001361620.1:p.His343Pro
NM_001374692.1:c.1028A>C	NP_001361621.1:p.His343Pro
NM_001374693.1:c.1028A>C	NP_001361622.1:p.His343Pro
NM_001374695.1:c.989A>C	NP_001361624.1:p.His330Pro
NM_007171.4:c.1445A>C	NP_009102.4:p.His482Pro
NR_148391.2:n.1413A>C
NR_148392.2:n.1631A>C
NR_148393.2:n.1552A>C
NR_148394.2:n.1306A>C
NR_148395.2:n.1704A>C
NR_148396.2:n.1338A>C
NR_148397.2:n.1463A>C
NR_148398.2:n.1418A>C
NR_148399.2:n.1944A>C
NR_148400.2:n.1543A>C