Canonical Allele Identifier: CA200795122

Gene: POMT1

Linked Data

• dbSNP Id: rs527627257
• gnomAD v4: 9-131518843-G-C
• MyVariant Identifiers: chr9:g.134394230G>C (hg19) ; chr9:g.131518843G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131518843G>C , CM000671.2:g.131518843G>C	GRCh38
NC_000009.11:g.134394230G>C , CM000671.1:g.134394230G>C	GRCh37
NC_000009.10:g.133384051G>C	NCBI36
NG_008896.1:g.20942G>C
NG_008896.2:g.20942G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1210G>C	ENSP00000343034.7:p.Gly404Arg
ENST00000404875.7:n.1912G>C
ENST00000423007.6:c.1429G>C	ENSP00000404119.2:p.Gly477Arg
ENST00000677295.2:c.*1716G>C	ENSP00000504346.2:n.*1716G>C
ENST00000678264.2:c.*1555G>C	ENSP00000503157.2:n.*1555G>C
ENST00000682070.1:n.1837G>C
ENST00000682539.1:c.310G>C
ENST00000682813.1:n.1776G>C
ENST00000683392.1:n.4119G>C
ENST00000683712.1:n.1777G>C
ENST00000683900.1:n.3272G>C
ENST00000684062.1:n.2038G>C
ENST00000684579.1:n.3218G>C
ENST00000684679.1:n.599G>C
ENST00000341012.12:c.1210G>C	ENSP00000343034.7:p.Gly404Arg
ENST00000372220.5:c.241G>C	ENSP00000361294.5:p.Gly81Arg
ENST00000372228.9:c.1438G>C	ENSP00000361302.3:p.Gly480Arg
ENST00000402686.8:c.1372G>C MANE Select	ENSP00000385797.4:p.Gly458Arg
ENST00000676640.1:c.1372G>C	ENSP00000503281.1:p.Gly458Arg
ENST00000676803.1:c.547G>C	ENSP00000503093.1:p.Gly183Arg
ENST00000676835.1:c.*587G>C	ENSP00000502911.1:n.*587G>C
ENST00000677029.1:c.916G>C	ENSP00000502936.1:p.Gly306Arg
ENST00000677099.1:c.*1082G>C	ENSP00000504553.1:n.*1082G>C
ENST00000677216.1:c.1021G>C	ENSP00000503772.1:p.Gly341Arg
ENST00000677221.1:n.397G>C
ENST00000677295.1:c.*749G>C	ENSP00000504346.1:n.*749G>C
ENST00000677444.1:c.1317G>C
ENST00000677586.1:n.853G>C
ENST00000677626.1:c.1021G>C	ENSP00000503552.1:p.Gly341Arg
ENST00000677677.1:n.1332G>C
ENST00000677853.1:c.*380G>C	ENSP00000503488.1:n.*380G>C
ENST00000678202.1:n.531G>C
ENST00000678264.1:c.*749G>C	ENSP00000503157.1:n.*749G>C
ENST00000678303.1:c.1282G>C	ENSP00000503696.1:p.Gly428Arg
ENST00000678366.1:c.*1621G>C	ENSP00000504353.1:n.*1621G>C
ENST00000678546.1:c.*1317G>C	ENSP00000503062.1:n.*1317G>C
ENST00000678548.1:c.*1444G>C	ENSP00000503934.1:n.*1444G>C
ENST00000678626.1:n.1208G>C
ENST00000678733.1:c.453G>C
ENST00000678739.1:c.*1698G>C	ENSP00000503806.1:n.*1698G>C
ENST00000678833.1:c.*819G>C	ENSP00000503893.1:n.*819G>C
ENST00000679023.1:c.1210G>C	ENSP00000503718.1:p.Gly404Arg
ENST00000679076.1:c.991G>C
ENST00000679111.1:c.*128G>C	ENSP00000504257.1:n.*128G>C
ENST00000679189.1:c.1021G>C	ENSP00000503356.1:p.Gly341Arg
ENST00000341012.11:c.1210G>C	ENSP00000343034.7:p.Gly404Arg
ENST00000372220.4:c.235G>C	ENSP00000361294.4:p.Gly79Arg
ENST00000372228.7:c.1438G>C	ENSP00000361302.3:p.Gly480Arg
ENST00000402686.7:c.1372G>C	ENSP00000385797.3:p.Gly458Arg
ENST00000404875.6:c.1021G>C	ENSP00000384531.2:p.Gly341Arg
ENST00000423007.5:c.1372G>C	ENSP00000404119.1:p.Gly458Arg
ENST00000467848.1:n.76G>C
ENST00000485278.5:n.1927G>C
NM_001077365.1:c.1372G>C	NP_001070833.1:p.Gly458Arg
NM_001077366.1:c.1210G>C	NP_001070834.1:p.Gly404Arg
NM_001136113.1:c.1372G>C	NP_001129585.1:p.Gly458Arg
NM_001136114.1:c.1021G>C	NP_001129586.1:p.Gly341Arg
NM_007171.3:c.1438G>C	NP_009102.3:p.Gly480Arg
XM_005272156.1:c.1438G>C	XP_005272213.1:p.Gly480Arg
XM_005272158.1:c.1276G>C	XP_005272215.1:p.Gly426Arg
XM_005272159.1:c.1087G>C	XP_005272216.1:p.Gly363Arg
XM_005272162.1:c.241G>C	XP_005272219.1:p.Gly81Arg
XM_006716932.1:c.1087G>C	XP_006716995.1:p.Gly363Arg
XM_011518140.1:c.1291G>C	XP_011516442.1:p.Gly431Arg
XM_011518141.1:c.1225G>C	XP_011516443.1:p.Gly409Arg
XM_011518142.1:c.1129G>C	XP_011516444.1:p.Gly377Arg
XM_011518143.1:c.1123G>C	XP_011516445.1:p.Gly375Arg
XM_011518144.1:c.*128G>C	XP_011516446.1:n.*128G>C
XM_011518145.1:c.982G>C	XP_011516447.1:p.Gly328Arg
XM_011518146.1:c.*128G>C	XP_011516448.1:n.*128G>C
XM_011518147.1:c.310G>C	XP_011516449.1:p.Gly104Arg
XR_929703.1:n.1614G>C
NM_001353193.1:c.1438G>C	NP_001340122.1:p.Gly480Arg
NM_001353194.1:c.1210G>C	NP_001340123.1:p.Gly404Arg
NM_001353195.1:c.1021G>C	NP_001340124.1:p.Gly341Arg
NM_001353196.1:c.1282G>C	NP_001340125.1:p.Gly428Arg
NM_001353197.1:c.1276G>C	NP_001340126.1:p.Gly426Arg
NM_001353198.1:c.1276G>C	NP_001340127.1:p.Gly426Arg
NM_001353199.1:c.1087G>C	NP_001340128.1:p.Gly363Arg
NM_001353200.1:c.916G>C	NP_001340129.1:p.Gly306Arg
NR_148391.1:n.1422G>C
NR_148392.1:n.1640G>C
NR_148393.1:n.1561G>C
NR_148394.1:n.1315G>C
NR_148395.1:n.1713G>C
NR_148396.1:n.1347G>C
NR_148397.1:n.1472G>C
NR_148398.1:n.1427G>C
NR_148399.1:n.1953G>C
NR_148400.1:n.1552G>C
XM_005272162.3:c.241G>C	XP_005272219.1:p.Gly81Arg
XM_006716932.2:c.1087G>C	XP_006716995.1:p.Gly363Arg
XM_011518140.2:c.1291G>C	XP_011516442.1:p.Gly431Arg
XM_011518141.2:c.1225G>C	XP_011516443.1:p.Gly409Arg
XM_011518142.2:c.1129G>C	XP_011516444.1:p.Gly377Arg
XM_011518143.2:c.1123G>C	XP_011516445.1:p.Gly375Arg
XM_011518145.2:c.982G>C	XP_011516447.1:p.Gly328Arg
XM_017014205.2:c.241G>C	XP_016869694.1:p.Gly81Arg
XM_024447380.1:c.241G>C	XP_024303148.1:p.Gly81Arg
XM_024447381.1:c.547G>C	XP_024303149.1:p.Gly183Arg
XM_024447382.1:c.241G>C	XP_024303150.1:p.Gly81Arg
XR_001746160.2:n.1542G>C
XR_001746162.2:n.1747G>C
XR_001746164.1:n.1464G>C
XR_001746166.2:n.1759G>C
NM_001077365.2:c.1372G>C MANE Select	NP_001070833.1:p.Gly458Arg
NM_001077366.2:c.1210G>C	NP_001070834.1:p.Gly404Arg
NM_001136113.2:c.1372G>C	NP_001129585.1:p.Gly458Arg
NM_001136114.2:c.1021G>C	NP_001129586.1:p.Gly341Arg
NM_001353193.2:c.1438G>C	NP_001340122.2:p.Gly480Arg
NM_001353194.2:c.1210G>C	NP_001340123.1:p.Gly404Arg
NM_001353195.2:c.1021G>C	NP_001340124.1:p.Gly341Arg
NM_001353196.2:c.1282G>C	NP_001340125.1:p.Gly428Arg
NM_001353197.2:c.1276G>C	NP_001340126.2:p.Gly426Arg
NM_001353198.2:c.1276G>C	NP_001340127.2:p.Gly426Arg
NM_001353199.2:c.1087G>C	NP_001340128.2:p.Gly363Arg
NM_001353200.2:c.916G>C	NP_001340129.1:p.Gly306Arg
NM_001374689.1:c.1360G>C	NP_001361618.1:p.Gly454Arg
NM_001374690.1:c.1365+306G>C	NP_001361619.1:n.1365+306G>C
NM_001374691.1:c.1021G>C	NP_001361620.1:p.Gly341Arg
NM_001374692.1:c.1021G>C	NP_001361621.1:p.Gly341Arg
NM_001374693.1:c.1021G>C	NP_001361622.1:p.Gly341Arg
NM_001374695.1:c.982G>C	NP_001361624.1:p.Gly328Arg
NM_007171.4:c.1438G>C	NP_009102.4:p.Gly480Arg
NR_148391.2:n.1406G>C
NR_148392.2:n.1624G>C
NR_148393.2:n.1545G>C
NR_148394.2:n.1299G>C
NR_148395.2:n.1697G>C
NR_148396.2:n.1331G>C
NR_148397.2:n.1456G>C
NR_148398.2:n.1411G>C
NR_148399.2:n.1937G>C
NR_148400.2:n.1536G>C