Canonical Allele Identifier: CA375312144

Gene: POMT1

Linked Data

• gnomAD v4: 9-131518952-G-A
• MyVariant Identifiers: chr9:g.134394339G>A (hg19) ; chr9:g.131518952G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131518952G>A , CM000671.2:g.131518952G>A	GRCh38
NC_000009.11:g.134394339G>A , CM000671.1:g.134394339G>A	GRCh37
NC_000009.10:g.133384160G>A	NCBI36
NG_008896.1:g.21051G>A
NG_008896.2:g.21051G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1319G>A	ENSP00000343034.7:p.Gly440Asp
ENST00000404875.7:n.2021G>A
ENST00000423007.6:c.1538G>A	ENSP00000404119.2:p.Gly513Asp
ENST00000677295.2:c.*1825G>A	ENSP00000504346.2:n.*1825G>A
ENST00000678264.2:c.*1664G>A	ENSP00000503157.2:n.*1664G>A
ENST00000682070.1:n.1946G>A
ENST00000682539.1:c.419G>A
ENST00000682813.1:n.1885G>A
ENST00000683392.1:n.4228G>A
ENST00000683712.1:n.1886G>A
ENST00000683900.1:n.3381G>A
ENST00000684062.1:n.2147G>A
ENST00000684579.1:n.3327G>A
ENST00000684679.1:n.708G>A
ENST00000341012.12:c.1319G>A	ENSP00000343034.7:p.Gly440Asp
ENST00000372220.5:c.350G>A	ENSP00000361294.5:p.Gly117Asp
ENST00000372228.9:c.1547G>A	ENSP00000361302.3:p.Gly516Asp
ENST00000402686.8:c.1481G>A MANE Select	ENSP00000385797.4:p.Gly494Asp
ENST00000676640.1:c.1481G>A	ENSP00000503281.1:p.Gly494Asp
ENST00000676803.1:c.656G>A	ENSP00000503093.1:p.Gly219Asp
ENST00000676835.1:c.*696G>A	ENSP00000502911.1:n.*696G>A
ENST00000677029.1:c.1025G>A	ENSP00000502936.1:p.Gly342Asp
ENST00000677099.1:c.*1191G>A	ENSP00000504553.1:n.*1191G>A
ENST00000677216.1:c.1130G>A	ENSP00000503772.1:p.Gly377Asp
ENST00000677221.1:n.506G>A
ENST00000677295.1:c.*858G>A	ENSP00000504346.1:n.*858G>A
ENST00000677444.1:c.1426G>A
ENST00000677586.1:n.962G>A
ENST00000677626.1:c.1130G>A	ENSP00000503552.1:p.Gly377Asp
ENST00000677677.1:n.1441G>A
ENST00000677853.1:c.*489G>A	ENSP00000503488.1:n.*489G>A
ENST00000678202.1:n.640G>A
ENST00000678264.1:c.*858G>A	ENSP00000503157.1:n.*858G>A
ENST00000678303.1:c.1391G>A	ENSP00000503696.1:p.Gly464Asp
ENST00000678366.1:c.*1730G>A	ENSP00000504353.1:n.*1730G>A
ENST00000678546.1:c.*1426G>A	ENSP00000503062.1:n.*1426G>A
ENST00000678548.1:c.*1553G>A	ENSP00000503934.1:n.*1553G>A
ENST00000678626.1:n.1317G>A
ENST00000678733.1:c.562G>A
ENST00000678739.1:c.*1807G>A	ENSP00000503806.1:n.*1807G>A
ENST00000678833.1:c.*928G>A	ENSP00000503893.1:n.*928G>A
ENST00000679023.1:c.1319G>A	ENSP00000503718.1:p.Gly440Asp
ENST00000679076.1:c.1100G>A
ENST00000679111.1:c.*237G>A	ENSP00000504257.1:n.*237G>A
ENST00000679189.1:c.1130G>A	ENSP00000503356.1:p.Gly377Asp
ENST00000341012.11:c.1319G>A	ENSP00000343034.7:p.Gly440Asp
ENST00000372220.4:c.344G>A	ENSP00000361294.4:p.Gly115Asp
ENST00000372228.7:c.1547G>A	ENSP00000361302.3:p.Gly516Asp
ENST00000402686.7:c.1481G>A	ENSP00000385797.3:p.Gly494Asp
ENST00000404875.6:c.1130G>A	ENSP00000384531.2:p.Gly377Asp
ENST00000423007.5:c.1481G>A	ENSP00000404119.1:p.Gly494Asp
ENST00000467848.1:n.185G>A
ENST00000485278.5:n.2036G>A
NM_001077365.1:c.1481G>A	NP_001070833.1:p.Gly494Asp
NM_001077366.1:c.1319G>A	NP_001070834.1:p.Gly440Asp
NM_001136113.1:c.1481G>A	NP_001129585.1:p.Gly494Asp
NM_001136114.1:c.1130G>A	NP_001129586.1:p.Gly377Asp
NM_007171.3:c.1547G>A	NP_009102.3:p.Gly516Asp
XM_005272156.1:c.1547G>A	XP_005272213.1:p.Gly516Asp
XM_005272158.1:c.1385G>A	XP_005272215.1:p.Gly462Asp
XM_005272159.1:c.1196G>A	XP_005272216.1:p.Gly399Asp
XM_005272162.1:c.350G>A	XP_005272219.1:p.Gly117Asp
XM_006716932.1:c.1196G>A	XP_006716995.1:p.Gly399Asp
XM_011518140.1:c.1400G>A	XP_011516442.1:p.Gly467Asp
XM_011518141.1:c.1334G>A	XP_011516443.1:p.Gly445Asp
XM_011518142.1:c.1238G>A	XP_011516444.1:p.Gly413Asp
XM_011518143.1:c.1232G>A	XP_011516445.1:p.Gly411Asp
XM_011518145.1:c.1091G>A	XP_011516447.1:p.Gly364Asp
XM_011518147.1:c.419G>A	XP_011516449.1:p.Gly140Asp
XR_929703.1:n.1723G>A
NM_001353193.1:c.1547G>A	NP_001340122.1:p.Gly516Asp
NM_001353194.1:c.1319G>A	NP_001340123.1:p.Gly440Asp
NM_001353195.1:c.1130G>A	NP_001340124.1:p.Gly377Asp
NM_001353196.1:c.1391G>A	NP_001340125.1:p.Gly464Asp
NM_001353197.1:c.1385G>A	NP_001340126.1:p.Gly462Asp
NM_001353198.1:c.1385G>A	NP_001340127.1:p.Gly462Asp
NM_001353199.1:c.1196G>A	NP_001340128.1:p.Gly399Asp
NM_001353200.1:c.1025G>A	NP_001340129.1:p.Gly342Asp
NR_148391.1:n.1531G>A
NR_148392.1:n.1749G>A
NR_148393.1:n.1670G>A
NR_148394.1:n.1424G>A
NR_148395.1:n.1822G>A
NR_148396.1:n.1456G>A
NR_148397.1:n.1581G>A
NR_148398.1:n.1536G>A
NR_148399.1:n.2062G>A
NR_148400.1:n.1661G>A
XM_005272162.3:c.350G>A	XP_005272219.1:p.Gly117Asp
XM_006716932.2:c.1196G>A	XP_006716995.1:p.Gly399Asp
XM_011518140.2:c.1400G>A	XP_011516442.1:p.Gly467Asp
XM_011518141.2:c.1334G>A	XP_011516443.1:p.Gly445Asp
XM_011518142.2:c.1238G>A	XP_011516444.1:p.Gly413Asp
XM_011518143.2:c.1232G>A	XP_011516445.1:p.Gly411Asp
XM_011518145.2:c.1091G>A	XP_011516447.1:p.Gly364Asp
XM_017014205.2:c.350G>A	XP_016869694.1:p.Gly117Asp
XM_024447380.1:c.350G>A	XP_024303148.1:p.Gly117Asp
XM_024447381.1:c.656G>A	XP_024303149.1:p.Gly219Asp
XM_024447382.1:c.350G>A	XP_024303150.1:p.Gly117Asp
XR_001746160.2:n.1651G>A
XR_001746162.2:n.1856G>A
XR_001746164.1:n.1573G>A
XR_001746166.2:n.1868G>A
NM_001077365.2:c.1481G>A MANE Select	NP_001070833.1:p.Gly494Asp
NM_001077366.2:c.1319G>A	NP_001070834.1:p.Gly440Asp
NM_001136113.2:c.1481G>A	NP_001129585.1:p.Gly494Asp
NM_001136114.2:c.1130G>A	NP_001129586.1:p.Gly377Asp
NM_001353193.2:c.1547G>A	NP_001340122.2:p.Gly516Asp
NM_001353194.2:c.1319G>A	NP_001340123.1:p.Gly440Asp
NM_001353195.2:c.1130G>A	NP_001340124.1:p.Gly377Asp
NM_001353196.2:c.1391G>A	NP_001340125.1:p.Gly464Asp
NM_001353197.2:c.1385G>A	NP_001340126.2:p.Gly462Asp
NM_001353198.2:c.1385G>A	NP_001340127.2:p.Gly462Asp
NM_001353199.2:c.1196G>A	NP_001340128.2:p.Gly399Asp
NM_001353200.2:c.1025G>A	NP_001340129.1:p.Gly342Asp
NM_001374689.1:c.1469G>A	NP_001361618.1:p.Gly490Asp
NM_001374690.1:c.1365+415G>A	NP_001361619.1:n.1365+415G>A
NM_001374691.1:c.1130G>A	NP_001361620.1:p.Gly377Asp
NM_001374692.1:c.1130G>A	NP_001361621.1:p.Gly377Asp
NM_001374693.1:c.1130G>A	NP_001361622.1:p.Gly377Asp
NM_001374695.1:c.1091G>A	NP_001361624.1:p.Gly364Asp
NM_007171.4:c.1547G>A	NP_009102.4:p.Gly516Asp
NR_148391.2:n.1515G>A
NR_148392.2:n.1733G>A
NR_148393.2:n.1654G>A
NR_148394.2:n.1408G>A
NR_148395.2:n.1806G>A
NR_148396.2:n.1440G>A
NR_148397.2:n.1565G>A
NR_148398.2:n.1520G>A
NR_148399.2:n.2046G>A
NR_148400.2:n.1645G>A