Canonical Allele Identifier: CA375312124

Gene: POMT1

Linked Data

• COSMIC: COSM4591566 ; COSM4591567 ; COSM4591568
• MyVariant Identifiers: chr9:g.134394333G>T (hg19) ; chr9:g.131518946G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131518946G>T , CM000671.2:g.131518946G>T	GRCh38
NC_000009.11:g.134394333G>T , CM000671.1:g.134394333G>T	GRCh37
NC_000009.10:g.133384154G>T	NCBI36
NG_008896.1:g.21045G>T
NG_008896.2:g.21045G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000341012.13:c.1313G>T	ENSP00000343034.7:p.Arg438Leu
ENST00000404875.7:n.2015G>T
ENST00000423007.6:c.1532G>T	ENSP00000404119.2:p.Arg511Leu
ENST00000677295.2:c.*1819G>T	ENSP00000504346.2:n.*1819G>T
ENST00000678264.2:c.*1658G>T	ENSP00000503157.2:n.*1658G>T
ENST00000682070.1:n.1940G>T
ENST00000682539.1:c.413G>T
ENST00000682813.1:n.1879G>T
ENST00000683392.1:n.4222G>T
ENST00000683712.1:n.1880G>T
ENST00000683900.1:n.3375G>T
ENST00000684062.1:n.2141G>T
ENST00000684579.1:n.3321G>T
ENST00000684679.1:n.702G>T
ENST00000341012.12:c.1313G>T	ENSP00000343034.7:p.Arg438Leu
ENST00000372220.5:c.344G>T	ENSP00000361294.5:p.Arg115Leu
ENST00000372228.9:c.1541G>T	ENSP00000361302.3:p.Arg514Leu
ENST00000402686.8:c.1475G>T MANE Select	ENSP00000385797.4:p.Arg492Leu
ENST00000676640.1:c.1475G>T	ENSP00000503281.1:p.Arg492Leu
ENST00000676803.1:c.650G>T	ENSP00000503093.1:p.Arg217Leu
ENST00000676835.1:c.*690G>T	ENSP00000502911.1:n.*690G>T
ENST00000677029.1:c.1019G>T	ENSP00000502936.1:p.Arg340Leu
ENST00000677099.1:c.*1185G>T	ENSP00000504553.1:n.*1185G>T
ENST00000677216.1:c.1124G>T	ENSP00000503772.1:p.Arg375Leu
ENST00000677221.1:n.500G>T
ENST00000677295.1:c.*852G>T	ENSP00000504346.1:n.*852G>T
ENST00000677444.1:c.1420G>T
ENST00000677586.1:n.956G>T
ENST00000677626.1:c.1124G>T	ENSP00000503552.1:p.Arg375Leu
ENST00000677677.1:n.1435G>T
ENST00000677853.1:c.*483G>T	ENSP00000503488.1:n.*483G>T
ENST00000678202.1:n.634G>T
ENST00000678264.1:c.*852G>T	ENSP00000503157.1:n.*852G>T
ENST00000678303.1:c.1385G>T	ENSP00000503696.1:p.Arg462Leu
ENST00000678366.1:c.*1724G>T	ENSP00000504353.1:n.*1724G>T
ENST00000678546.1:c.*1420G>T	ENSP00000503062.1:n.*1420G>T
ENST00000678548.1:c.*1547G>T	ENSP00000503934.1:n.*1547G>T
ENST00000678626.1:n.1311G>T
ENST00000678733.1:c.556G>T
ENST00000678739.1:c.*1801G>T	ENSP00000503806.1:n.*1801G>T
ENST00000678833.1:c.*922G>T	ENSP00000503893.1:n.*922G>T
ENST00000679023.1:c.1313G>T	ENSP00000503718.1:p.Arg438Leu
ENST00000679076.1:c.1094G>T
ENST00000679111.1:c.*231G>T	ENSP00000504257.1:n.*231G>T
ENST00000679189.1:c.1124G>T	ENSP00000503356.1:p.Arg375Leu
ENST00000341012.11:c.1313G>T	ENSP00000343034.7:p.Arg438Leu
ENST00000372220.4:c.338G>T	ENSP00000361294.4:p.Arg113Leu
ENST00000372228.7:c.1541G>T	ENSP00000361302.3:p.Arg514Leu
ENST00000402686.7:c.1475G>T	ENSP00000385797.3:p.Arg492Leu
ENST00000404875.6:c.1124G>T	ENSP00000384531.2:p.Arg375Leu
ENST00000423007.5:c.1475G>T	ENSP00000404119.1:p.Arg492Leu
ENST00000467848.1:n.179G>T
ENST00000485278.5:n.2030G>T
NM_001077365.1:c.1475G>T	NP_001070833.1:p.Arg492Leu
NM_001077366.1:c.1313G>T	NP_001070834.1:p.Arg438Leu
NM_001136113.1:c.1475G>T	NP_001129585.1:p.Arg492Leu
NM_001136114.1:c.1124G>T	NP_001129586.1:p.Arg375Leu
NM_007171.3:c.1541G>T	NP_009102.3:p.Arg514Leu
XM_005272156.1:c.1541G>T	XP_005272213.1:p.Arg514Leu
XM_005272158.1:c.1379G>T	XP_005272215.1:p.Arg460Leu
XM_005272159.1:c.1190G>T	XP_005272216.1:p.Arg397Leu
XM_005272162.1:c.344G>T	XP_005272219.1:p.Arg115Leu
XM_006716932.1:c.1190G>T	XP_006716995.1:p.Arg397Leu
XM_011518140.1:c.1394G>T	XP_011516442.1:p.Arg465Leu
XM_011518141.1:c.1328G>T	XP_011516443.1:p.Arg443Leu
XM_011518142.1:c.1232G>T	XP_011516444.1:p.Arg411Leu
XM_011518143.1:c.1226G>T	XP_011516445.1:p.Arg409Leu
XM_011518145.1:c.1085G>T	XP_011516447.1:p.Arg362Leu
XM_011518147.1:c.413G>T	XP_011516449.1:p.Arg138Leu
XR_929703.1:n.1717G>T
NM_001353193.1:c.1541G>T	NP_001340122.1:p.Arg514Leu
NM_001353194.1:c.1313G>T	NP_001340123.1:p.Arg438Leu
NM_001353195.1:c.1124G>T	NP_001340124.1:p.Arg375Leu
NM_001353196.1:c.1385G>T	NP_001340125.1:p.Arg462Leu
NM_001353197.1:c.1379G>T	NP_001340126.1:p.Arg460Leu
NM_001353198.1:c.1379G>T	NP_001340127.1:p.Arg460Leu
NM_001353199.1:c.1190G>T	NP_001340128.1:p.Arg397Leu
NM_001353200.1:c.1019G>T	NP_001340129.1:p.Arg340Leu
NR_148391.1:n.1525G>T
NR_148392.1:n.1743G>T
NR_148393.1:n.1664G>T
NR_148394.1:n.1418G>T
NR_148395.1:n.1816G>T
NR_148396.1:n.1450G>T
NR_148397.1:n.1575G>T
NR_148398.1:n.1530G>T
NR_148399.1:n.2056G>T
NR_148400.1:n.1655G>T
XM_005272162.3:c.344G>T	XP_005272219.1:p.Arg115Leu
XM_006716932.2:c.1190G>T	XP_006716995.1:p.Arg397Leu
XM_011518140.2:c.1394G>T	XP_011516442.1:p.Arg465Leu
XM_011518141.2:c.1328G>T	XP_011516443.1:p.Arg443Leu
XM_011518142.2:c.1232G>T	XP_011516444.1:p.Arg411Leu
XM_011518143.2:c.1226G>T	XP_011516445.1:p.Arg409Leu
XM_011518145.2:c.1085G>T	XP_011516447.1:p.Arg362Leu
XM_017014205.2:c.344G>T	XP_016869694.1:p.Arg115Leu
XM_024447380.1:c.344G>T	XP_024303148.1:p.Arg115Leu
XM_024447381.1:c.650G>T	XP_024303149.1:p.Arg217Leu
XM_024447382.1:c.344G>T	XP_024303150.1:p.Arg115Leu
XR_001746160.2:n.1645G>T
XR_001746162.2:n.1850G>T
XR_001746164.1:n.1567G>T
XR_001746166.2:n.1862G>T
NM_001077365.2:c.1475G>T MANE Select	NP_001070833.1:p.Arg492Leu
NM_001077366.2:c.1313G>T	NP_001070834.1:p.Arg438Leu
NM_001136113.2:c.1475G>T	NP_001129585.1:p.Arg492Leu
NM_001136114.2:c.1124G>T	NP_001129586.1:p.Arg375Leu
NM_001353193.2:c.1541G>T	NP_001340122.2:p.Arg514Leu
NM_001353194.2:c.1313G>T	NP_001340123.1:p.Arg438Leu
NM_001353195.2:c.1124G>T	NP_001340124.1:p.Arg375Leu
NM_001353196.2:c.1385G>T	NP_001340125.1:p.Arg462Leu
NM_001353197.2:c.1379G>T	NP_001340126.2:p.Arg460Leu
NM_001353198.2:c.1379G>T	NP_001340127.2:p.Arg460Leu
NM_001353199.2:c.1190G>T	NP_001340128.2:p.Arg397Leu
NM_001353200.2:c.1019G>T	NP_001340129.1:p.Arg340Leu
NM_001374689.1:c.1463G>T	NP_001361618.1:p.Arg488Leu
NM_001374690.1:c.1365+409G>T	NP_001361619.1:n.1365+409G>T
NM_001374691.1:c.1124G>T	NP_001361620.1:p.Arg375Leu
NM_001374692.1:c.1124G>T	NP_001361621.1:p.Arg375Leu
NM_001374693.1:c.1124G>T	NP_001361622.1:p.Arg375Leu
NM_001374695.1:c.1085G>T	NP_001361624.1:p.Arg362Leu
NM_007171.4:c.1541G>T	NP_009102.4:p.Arg514Leu
NR_148391.2:n.1509G>T
NR_148392.2:n.1727G>T
NR_148393.2:n.1648G>T
NR_148394.2:n.1402G>T
NR_148395.2:n.1800G>T
NR_148396.2:n.1434G>T
NR_148397.2:n.1559G>T
NR_148398.2:n.1514G>T
NR_148399.2:n.2040G>T
NR_148400.2:n.1639G>T