Canonical Allele Identifier: CA375311189

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134393854A>G (hg19) ; chr9:g.131518467A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131518467A>G , CM000671.2:g.131518467A>G	GRCh38
NC_000009.11:g.134393854A>G , CM000671.1:g.134393854A>G	GRCh37
NC_000009.10:g.133383675A>G	NCBI36
NG_008896.1:g.20566A>G
NG_008896.2:g.20566A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1133A>G	ENSP00000343034.7:p.Asp378Gly
ENST00000404875.7:n.1835A>G
ENST00000423007.6:c.1352A>G	ENSP00000404119.2:p.Asp451Gly
ENST00000677295.2:c.*1639A>G	ENSP00000504346.2:n.*1639A>G
ENST00000678264.2:c.*1478A>G	ENSP00000503157.2:n.*1478A>G
ENST00000682070.1:n.1760A>G
ENST00000682535.1:n.67A>G
ENST00000682539.1:c.233A>G
ENST00000682813.1:n.1560A>G
ENST00000683110.1:n.23A>G
ENST00000683392.1:n.4042A>G
ENST00000683712.1:n.1700A>G
ENST00000683900.1:n.3195A>G
ENST00000684062.1:n.1961A>G
ENST00000684579.1:n.3141A>G
ENST00000684679.1:n.522A>G
ENST00000341012.12:c.1133A>G	ENSP00000343034.7:p.Asp378Gly
ENST00000372220.5:c.164A>G	ENSP00000361294.5:p.Asp55Gly
ENST00000372228.9:c.1361A>G	ENSP00000361302.3:p.Asp454Gly
ENST00000402686.8:c.1295A>G MANE Select	ENSP00000385797.4:p.Asp432Gly
ENST00000676640.1:c.1295A>G	ENSP00000503281.1:p.Asp432Gly
ENST00000676803.1:c.470A>G	ENSP00000503093.1:p.Asp157Gly
ENST00000676835.1:c.*510A>G	ENSP00000502911.1:n.*510A>G
ENST00000677029.1:c.839A>G	ENSP00000502936.1:p.Asp280Gly
ENST00000677099.1:c.*1005A>G	ENSP00000504553.1:n.*1005A>G
ENST00000677216.1:c.944A>G	ENSP00000503772.1:p.Asp315Gly
ENST00000677221.1:n.320A>G
ENST00000677295.1:c.*672A>G	ENSP00000504346.1:n.*672A>G
ENST00000677444.1:c.1101A>G
ENST00000677586.1:n.776A>G
ENST00000677626.1:c.944A>G	ENSP00000503552.1:p.Asp315Gly
ENST00000677677.1:n.1255A>G
ENST00000677853.1:c.*303A>G	ENSP00000503488.1:n.*303A>G
ENST00000677983.1:n.384A>G
ENST00000678202.1:n.315A>G
ENST00000678264.1:c.*672A>G	ENSP00000503157.1:n.*672A>G
ENST00000678303.1:c.1205A>G	ENSP00000503696.1:p.Asp402Gly
ENST00000678366.1:c.*1544A>G	ENSP00000504353.1:n.*1544A>G
ENST00000678546.1:c.*1240A>G	ENSP00000503062.1:n.*1240A>G
ENST00000678548.1:c.*1367A>G	ENSP00000503934.1:n.*1367A>G
ENST00000678626.1:n.992A>G
ENST00000678733.1:c.376A>G
ENST00000678739.1:c.*1621A>G	ENSP00000503806.1:n.*1621A>G
ENST00000678795.1:n.382A>G
ENST00000678833.1:c.*742A>G	ENSP00000503893.1:n.*742A>G
ENST00000678942.1:c.475A>G	ENSP00000504690.1:n.475A>G
ENST00000679023.1:c.1133A>G	ENSP00000503718.1:p.Asp378Gly
ENST00000679076.1:c.914A>G
ENST00000679111.1:c.1295A>G	ENSP00000504257.1:p.Asp432Gly
ENST00000679189.1:c.944A>G	ENSP00000503356.1:p.Asp315Gly
ENST00000341012.11:c.1133A>G	ENSP00000343034.7:p.Asp378Gly
ENST00000372220.4:c.158A>G	ENSP00000361294.4:p.Asp53Gly
ENST00000372228.7:c.1361A>G	ENSP00000361302.3:p.Asp454Gly
ENST00000402686.7:c.1295A>G	ENSP00000385797.3:p.Asp432Gly
ENST00000404875.6:c.944A>G	ENSP00000384531.2:p.Asp315Gly
ENST00000423007.5:c.1295A>G	ENSP00000404119.1:p.Asp432Gly
ENST00000485278.5:n.1850A>G
NM_001077365.1:c.1295A>G	NP_001070833.1:p.Asp432Gly
NM_001077366.1:c.1133A>G	NP_001070834.1:p.Asp378Gly
NM_001136113.1:c.1295A>G	NP_001129585.1:p.Asp432Gly
NM_001136114.1:c.944A>G	NP_001129586.1:p.Asp315Gly
NM_007171.3:c.1361A>G	NP_009102.3:p.Asp454Gly
XM_005272156.1:c.1361A>G	XP_005272213.1:p.Asp454Gly
XM_005272158.1:c.1199A>G	XP_005272215.1:p.Asp400Gly
XM_005272159.1:c.1010A>G	XP_005272216.1:p.Asp337Gly
XM_005272162.1:c.164A>G	XP_005272219.1:p.Asp55Gly
XM_006716932.1:c.1010A>G	XP_006716995.1:p.Asp337Gly
XM_011518140.1:c.1214A>G	XP_011516442.1:p.Asp405Gly
XM_011518141.1:c.1148A>G	XP_011516443.1:p.Asp383Gly
XM_011518142.1:c.1052A>G	XP_011516444.1:p.Asp351Gly
XM_011518143.1:c.1046A>G	XP_011516445.1:p.Asp349Gly
XM_011518144.1:c.1361A>G	XP_011516446.1:p.Asp454Gly
XM_011518145.1:c.905A>G	XP_011516447.1:p.Asp302Gly
XM_011518146.1:c.1046A>G	XP_011516448.1:p.Asp349Gly
XM_011518147.1:c.233A>G	XP_011516449.1:p.Asp78Gly
XR_929703.1:n.1537A>G
NM_001353193.1:c.1361A>G	NP_001340122.1:p.Asp454Gly
NM_001353194.1:c.1133A>G	NP_001340123.1:p.Asp378Gly
NM_001353195.1:c.944A>G	NP_001340124.1:p.Asp315Gly
NM_001353196.1:c.1205A>G	NP_001340125.1:p.Asp402Gly
NM_001353197.1:c.1199A>G	NP_001340126.1:p.Asp400Gly
NM_001353198.1:c.1199A>G	NP_001340127.1:p.Asp400Gly
NM_001353199.1:c.1010A>G	NP_001340128.1:p.Asp337Gly
NM_001353200.1:c.839A>G	NP_001340129.1:p.Asp280Gly
NR_148391.1:n.1345A>G
NR_148392.1:n.1563A>G
NR_148393.1:n.1345A>G
NR_148394.1:n.1238A>G
NR_148395.1:n.1497A>G
NR_148396.1:n.1131A>G
NR_148397.1:n.1395A>G
NR_148398.1:n.1350A>G
NR_148399.1:n.1737A>G
NR_148400.1:n.1336A>G
XM_005272162.3:c.164A>G	XP_005272219.1:p.Asp55Gly
XM_006716932.2:c.1010A>G	XP_006716995.1:p.Asp337Gly
XM_011518140.2:c.1214A>G	XP_011516442.1:p.Asp405Gly
XM_011518141.2:c.1148A>G	XP_011516443.1:p.Asp383Gly
XM_011518142.2:c.1052A>G	XP_011516444.1:p.Asp351Gly
XM_011518143.2:c.1046A>G	XP_011516445.1:p.Asp349Gly
XM_011518145.2:c.905A>G	XP_011516447.1:p.Asp302Gly
XM_017014205.2:c.164A>G	XP_016869694.1:p.Asp55Gly
XM_024447380.1:c.164A>G	XP_024303148.1:p.Asp55Gly
XM_024447381.1:c.470A>G	XP_024303149.1:p.Asp157Gly
XM_024447382.1:c.164A>G	XP_024303150.1:p.Asp55Gly
XR_001746160.2:n.1465A>G
XR_001746162.2:n.1531A>G
XR_001746164.1:n.1248A>G
XR_001746166.2:n.1682A>G
NM_001077365.2:c.1295A>G MANE Select	NP_001070833.1:p.Asp432Gly
NM_001077366.2:c.1133A>G	NP_001070834.1:p.Asp378Gly
NM_001136113.2:c.1295A>G	NP_001129585.1:p.Asp432Gly
NM_001136114.2:c.944A>G	NP_001129586.1:p.Asp315Gly
NM_001353193.2:c.1361A>G	NP_001340122.2:p.Asp454Gly
NM_001353194.2:c.1133A>G	NP_001340123.1:p.Asp378Gly
NM_001353195.2:c.944A>G	NP_001340124.1:p.Asp315Gly
NM_001353196.2:c.1205A>G	NP_001340125.1:p.Asp402Gly
NM_001353197.2:c.1199A>G	NP_001340126.2:p.Asp400Gly
NM_001353198.2:c.1199A>G	NP_001340127.2:p.Asp400Gly
NM_001353199.2:c.1010A>G	NP_001340128.2:p.Asp337Gly
NM_001353200.2:c.839A>G	NP_001340129.1:p.Asp280Gly
NM_001374689.1:c.1283A>G	NP_001361618.1:p.Asp428Gly
NM_001374690.1:c.1295A>G	NP_001361619.1:p.Asp432Gly
NM_001374691.1:c.944A>G	NP_001361620.1:p.Asp315Gly
NM_001374692.1:c.944A>G	NP_001361621.1:p.Asp315Gly
NM_001374693.1:c.944A>G	NP_001361622.1:p.Asp315Gly
NM_001374695.1:c.905A>G	NP_001361624.1:p.Asp302Gly
NM_007171.4:c.1361A>G	NP_009102.4:p.Asp454Gly
NR_148391.2:n.1329A>G
NR_148392.2:n.1547A>G
NR_148393.2:n.1329A>G
NR_148394.2:n.1222A>G
NR_148395.2:n.1481A>G
NR_148396.2:n.1115A>G
NR_148397.2:n.1379A>G
NR_148398.2:n.1334A>G
NR_148399.2:n.1721A>G
NR_148400.2:n.1320A>G