Canonical Allele Identifier: CA375309063

Gene: POMT1

Linked Data

• dbSNP Id: rs146869947
• gnomAD v2: 9-134388669-G-T
• gnomAD v3: 9-131513282-G-T
• gnomAD v4: 9-131513282-G-T
• MyVariant Identifiers: chr9:g.134388669G>T (hg19) ; chr9:g.131513282G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131513282G>T , CM000671.2:g.131513282G>T	GRCh38
NC_000009.11:g.134388669G>T , CM000671.1:g.134388669G>T	GRCh37
NC_000009.10:g.133378490G>T	NCBI36
NG_008896.1:g.15381G>T
NG_008896.2:g.15381G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000341012.13:c.964G>T	ENSP00000343034.7:p.Gly322Trp
ENST00000404875.7:n.1666G>T
ENST00000423007.6:c.1183G>T	ENSP00000404119.2:p.Gly395Trp
ENST00000677295.2:c.*1470G>T	ENSP00000504346.2:n.*1470G>T
ENST00000678264.2:c.*1309G>T	ENSP00000503157.2:n.*1309G>T
ENST00000678942.2:c.*679G>T	ENSP00000504690.2:n.*679G>T
ENST00000682070.1:n.1591G>T
ENST00000682813.1:n.1391G>T
ENST00000683392.1:n.3873G>T
ENST00000683712.1:n.1531G>T
ENST00000683900.1:n.3026G>T
ENST00000684062.1:n.1792G>T
ENST00000684579.1:n.2972G>T
ENST00000341012.12:c.964G>T	ENSP00000343034.7:p.Gly322Trp
ENST00000372220.5:c.-6G>T	ENSP00000361294.5:n.-6G>T
ENST00000372228.9:c.1192G>T	ENSP00000361302.3:p.Gly398Trp
ENST00000402686.8:c.1126G>T MANE Select	ENSP00000385797.4:p.Gly376Trp
ENST00000676640.1:c.1126G>T	ENSP00000503281.1:p.Gly376Trp
ENST00000676803.1:c.301G>T	ENSP00000503093.1:p.Gly101Trp
ENST00000676835.1:c.*341G>T	ENSP00000502911.1:n.*341G>T
ENST00000677029.1:c.670G>T	ENSP00000502936.1:p.Gly224Trp
ENST00000677099.1:c.*836G>T	ENSP00000504553.1:n.*836G>T
ENST00000677216.1:c.775G>T	ENSP00000503772.1:p.Gly259Trp
ENST00000677293.1:c.301G>T	ENSP00000504278.1:p.Gly101Trp
ENST00000677295.1:c.*503G>T	ENSP00000504346.1:n.*503G>T
ENST00000677444.1:c.932G>T
ENST00000677586.1:n.607G>T
ENST00000677626.1:c.824+1815G>T	ENSP00000503552.1:n.824+1815G>T
ENST00000677677.1:n.1086G>T
ENST00000677853.1:c.*134G>T	ENSP00000503488.1:n.*134G>T
ENST00000677944.1:c.388G>T
ENST00000678264.1:c.*503G>T	ENSP00000503157.1:n.*503G>T
ENST00000678303.1:c.1036G>T	ENSP00000503696.1:p.Gly346Trp
ENST00000678366.1:c.*1375G>T	ENSP00000504353.1:n.*1375G>T
ENST00000678546.1:c.*1071G>T	ENSP00000503062.1:n.*1071G>T
ENST00000678548.1:c.*1198G>T	ENSP00000503934.1:n.*1198G>T
ENST00000678626.1:n.823G>T
ENST00000678733.1:c.256+1146G>T
ENST00000678739.1:c.*1452G>T	ENSP00000503806.1:n.*1452G>T
ENST00000678795.1:n.213G>T
ENST00000678833.1:c.*573G>T	ENSP00000503893.1:n.*573G>T
ENST00000678942.1:c.306G>T	ENSP00000504690.1:n.306G>T
ENST00000679023.1:c.964G>T	ENSP00000503718.1:p.Gly322Trp
ENST00000679073.1:c.504G>T	ENSP00000504356.1:n.504G>T
ENST00000679076.1:c.745G>T
ENST00000679111.1:c.1126G>T	ENSP00000504257.1:p.Gly376Trp
ENST00000679189.1:c.775G>T	ENSP00000503356.1:p.Gly259Trp
ENST00000341012.11:c.964G>T	ENSP00000343034.7:p.Gly322Trp
ENST00000372228.7:c.1192G>T	ENSP00000361302.3:p.Gly398Trp
ENST00000402686.7:c.1126G>T	ENSP00000385797.3:p.Gly376Trp
ENST00000404875.6:c.775G>T	ENSP00000384531.2:p.Gly259Trp
ENST00000423007.5:c.1126G>T	ENSP00000404119.1:p.Gly376Trp
ENST00000441334.5:c.841G>T	ENSP00000395060.1:p.Gly281Trp
ENST00000462375.5:n.952G>T
ENST00000485278.5:n.1681G>T
NM_001077365.1:c.1126G>T	NP_001070833.1:p.Gly376Trp
NM_001077366.1:c.964G>T	NP_001070834.1:p.Gly322Trp
NM_001136113.1:c.1126G>T	NP_001129585.1:p.Gly376Trp
NM_001136114.1:c.775G>T	NP_001129586.1:p.Gly259Trp
NM_007171.3:c.1192G>T	NP_009102.3:p.Gly398Trp
XM_005272156.1:c.1192G>T	XP_005272213.1:p.Gly398Trp
XM_005272158.1:c.1030G>T	XP_005272215.1:p.Gly344Trp
XM_005272159.1:c.841G>T	XP_005272216.1:p.Gly281Trp
XM_005272162.1:c.-6G>T	XP_005272219.1:n.-6G>T
XM_006716932.1:c.841G>T	XP_006716995.1:p.Gly281Trp
XM_011518140.1:c.1045G>T	XP_011516442.1:p.Gly349Trp
XM_011518141.1:c.979G>T	XP_011516443.1:p.Gly327Trp
XM_011518142.1:c.883G>T	XP_011516444.1:p.Gly295Trp
XM_011518143.1:c.877G>T	XP_011516445.1:p.Gly293Trp
XM_011518144.1:c.1192G>T	XP_011516446.1:p.Gly398Trp
XM_011518145.1:c.736G>T	XP_011516447.1:p.Gly246Trp
XM_011518146.1:c.877G>T	XP_011516448.1:p.Gly293Trp
XR_929703.1:n.1368G>T
NM_001353193.1:c.1192G>T	NP_001340122.1:p.Gly398Trp
NM_001353194.1:c.964G>T	NP_001340123.1:p.Gly322Trp
NM_001353195.1:c.775G>T	NP_001340124.1:p.Gly259Trp
NM_001353196.1:c.1036G>T	NP_001340125.1:p.Gly346Trp
NM_001353197.1:c.1030G>T	NP_001340126.1:p.Gly344Trp
NM_001353198.1:c.1030G>T	NP_001340127.1:p.Gly344Trp
NM_001353199.1:c.841G>T	NP_001340128.1:p.Gly281Trp
NM_001353200.1:c.670G>T	NP_001340129.1:p.Gly224Trp
NR_148391.1:n.1176G>T
NR_148392.1:n.1394G>T
NR_148393.1:n.1176G>T
NR_148394.1:n.1069G>T
NR_148395.1:n.1328G>T
NR_148396.1:n.962G>T
NR_148397.1:n.1226G>T
NR_148398.1:n.1181G>T
NR_148399.1:n.1568G>T
NR_148400.1:n.1167G>T
XM_005272162.3:c.-6G>T	XP_005272219.1:n.-6G>T
XM_006716932.2:c.841G>T	XP_006716995.1:p.Gly281Trp
XM_011518140.2:c.1045G>T	XP_011516442.1:p.Gly349Trp
XM_011518141.2:c.979G>T	XP_011516443.1:p.Gly327Trp
XM_011518142.2:c.883G>T	XP_011516444.1:p.Gly295Trp
XM_011518143.2:c.877G>T	XP_011516445.1:p.Gly293Trp
XM_011518145.2:c.736G>T	XP_011516447.1:p.Gly246Trp
XM_017014205.2:c.-6G>T	XP_016869694.1:n.-6G>T
XM_024447380.1:c.-6G>T	XP_024303148.1:n.-6G>T
XM_024447381.1:c.301G>T	XP_024303149.1:p.Gly101Trp
XM_024447382.1:c.-6G>T	XP_024303150.1:n.-6G>T
XR_001746160.2:n.1296G>T
XR_001746162.2:n.1362G>T
XR_001746164.1:n.1079G>T
XR_001746166.2:n.1513G>T
NM_001077365.2:c.1126G>T MANE Select	NP_001070833.1:p.Gly376Trp
NM_001077366.2:c.964G>T	NP_001070834.1:p.Gly322Trp
NM_001136113.2:c.1126G>T	NP_001129585.1:p.Gly376Trp
NM_001136114.2:c.775G>T	NP_001129586.1:p.Gly259Trp
NM_001353193.2:c.1192G>T	NP_001340122.2:p.Gly398Trp
NM_001353194.2:c.964G>T	NP_001340123.1:p.Gly322Trp
NM_001353195.2:c.775G>T	NP_001340124.1:p.Gly259Trp
NM_001353196.2:c.1036G>T	NP_001340125.1:p.Gly346Trp
NM_001353197.2:c.1030G>T	NP_001340126.2:p.Gly344Trp
NM_001353198.2:c.1030G>T	NP_001340127.2:p.Gly344Trp
NM_001353199.2:c.841G>T	NP_001340128.2:p.Gly281Trp
NM_001353200.2:c.670G>T	NP_001340129.1:p.Gly224Trp
NM_001374689.1:c.1114G>T	NP_001361618.1:p.Gly372Trp
NM_001374690.1:c.1126G>T	NP_001361619.1:p.Gly376Trp
NM_001374691.1:c.775G>T	NP_001361620.1:p.Gly259Trp
NM_001374692.1:c.775G>T	NP_001361621.1:p.Gly259Trp
NM_001374693.1:c.824+1815G>T	NP_001361622.1:n.824+1815G>T
NM_001374695.1:c.736G>T	NP_001361624.1:p.Gly246Trp
NM_007171.4:c.1192G>T	NP_009102.4:p.Gly398Trp
NR_148391.2:n.1160G>T
NR_148392.2:n.1378G>T
NR_148393.2:n.1160G>T
NR_148394.2:n.1053G>T
NR_148395.2:n.1312G>T
NR_148396.2:n.946G>T
NR_148397.2:n.1210G>T
NR_148398.2:n.1165G>T
NR_148399.2:n.1552G>T
NR_148400.2:n.1151G>T