Canonical Allele Identifier: CA375311351

Gene: POMT1

Linked Data

• gnomAD v4: 9-131518496-G-C
• MyVariant Identifiers: chr9:g.134393883G>C (hg19) ; chr9:g.131518496G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131518496G>C , CM000671.2:g.131518496G>C	GRCh38
NC_000009.11:g.134393883G>C , CM000671.1:g.134393883G>C	GRCh37
NC_000009.10:g.133383704G>C	NCBI36
NG_008896.1:g.20595G>C
NG_008896.2:g.20595G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1162G>C	ENSP00000343034.7:p.Glu388Gln
ENST00000404875.7:n.1864G>C
ENST00000423007.6:c.1381G>C	ENSP00000404119.2:p.Glu461Gln
ENST00000677295.2:c.*1668G>C	ENSP00000504346.2:n.*1668G>C
ENST00000678264.2:c.*1507G>C	ENSP00000503157.2:n.*1507G>C
ENST00000682070.1:n.1789G>C
ENST00000682535.1:n.96G>C
ENST00000682539.1:c.262G>C
ENST00000682813.1:n.1589G>C
ENST00000683110.1:n.52G>C
ENST00000683392.1:n.4071G>C
ENST00000683712.1:n.1729G>C
ENST00000683900.1:n.3224G>C
ENST00000684062.1:n.1990G>C
ENST00000684579.1:n.3170G>C
ENST00000684679.1:n.551G>C
ENST00000341012.12:c.1162G>C	ENSP00000343034.7:p.Glu388Gln
ENST00000372220.5:c.193G>C	ENSP00000361294.5:p.Glu65Gln
ENST00000372228.9:c.1390G>C	ENSP00000361302.3:p.Glu464Gln
ENST00000402686.8:c.1324G>C MANE Select	ENSP00000385797.4:p.Glu442Gln
ENST00000676640.1:c.1324G>C	ENSP00000503281.1:p.Glu442Gln
ENST00000676803.1:c.499G>C	ENSP00000503093.1:p.Glu167Gln
ENST00000676835.1:c.*539G>C	ENSP00000502911.1:n.*539G>C
ENST00000677029.1:c.868G>C	ENSP00000502936.1:p.Glu290Gln
ENST00000677099.1:c.*1034G>C	ENSP00000504553.1:n.*1034G>C
ENST00000677216.1:c.973G>C	ENSP00000503772.1:p.Glu325Gln
ENST00000677221.1:n.349G>C
ENST00000677295.1:c.*701G>C	ENSP00000504346.1:n.*701G>C
ENST00000677444.1:c.1130G>C
ENST00000677586.1:n.805G>C
ENST00000677626.1:c.973G>C	ENSP00000503552.1:p.Glu325Gln
ENST00000677677.1:n.1284G>C
ENST00000677853.1:c.*332G>C	ENSP00000503488.1:n.*332G>C
ENST00000677983.1:n.413G>C
ENST00000678202.1:n.344G>C
ENST00000678264.1:c.*701G>C	ENSP00000503157.1:n.*701G>C
ENST00000678303.1:c.1234G>C	ENSP00000503696.1:p.Glu412Gln
ENST00000678366.1:c.*1573G>C	ENSP00000504353.1:n.*1573G>C
ENST00000678546.1:c.*1269G>C	ENSP00000503062.1:n.*1269G>C
ENST00000678548.1:c.*1396G>C	ENSP00000503934.1:n.*1396G>C
ENST00000678626.1:n.1021G>C
ENST00000678733.1:c.405G>C
ENST00000678739.1:c.*1650G>C	ENSP00000503806.1:n.*1650G>C
ENST00000678795.1:n.411G>C
ENST00000678833.1:c.*771G>C	ENSP00000503893.1:n.*771G>C
ENST00000678942.1:c.504G>C	ENSP00000504690.1:n.504G>C
ENST00000679023.1:c.1162G>C	ENSP00000503718.1:p.Glu388Gln
ENST00000679076.1:c.943G>C
ENST00000679111.1:c.1324G>C	ENSP00000504257.1:p.Glu442Gln
ENST00000679189.1:c.973G>C	ENSP00000503356.1:p.Glu325Gln
ENST00000341012.11:c.1162G>C	ENSP00000343034.7:p.Glu388Gln
ENST00000372220.4:c.187G>C	ENSP00000361294.4:p.Glu63Gln
ENST00000372228.7:c.1390G>C	ENSP00000361302.3:p.Glu464Gln
ENST00000402686.7:c.1324G>C	ENSP00000385797.3:p.Glu442Gln
ENST00000404875.6:c.973G>C	ENSP00000384531.2:p.Glu325Gln
ENST00000423007.5:c.1324G>C	ENSP00000404119.1:p.Glu442Gln
ENST00000485278.5:n.1879G>C
NM_001077365.1:c.1324G>C	NP_001070833.1:p.Glu442Gln
NM_001077366.1:c.1162G>C	NP_001070834.1:p.Glu388Gln
NM_001136113.1:c.1324G>C	NP_001129585.1:p.Glu442Gln
NM_001136114.1:c.973G>C	NP_001129586.1:p.Glu325Gln
NM_007171.3:c.1390G>C	NP_009102.3:p.Glu464Gln
XM_005272156.1:c.1390G>C	XP_005272213.1:p.Glu464Gln
XM_005272158.1:c.1228G>C	XP_005272215.1:p.Glu410Gln
XM_005272159.1:c.1039G>C	XP_005272216.1:p.Glu347Gln
XM_005272162.1:c.193G>C	XP_005272219.1:p.Glu65Gln
XM_006716932.1:c.1039G>C	XP_006716995.1:p.Glu347Gln
XM_011518140.1:c.1243G>C	XP_011516442.1:p.Glu415Gln
XM_011518141.1:c.1177G>C	XP_011516443.1:p.Glu393Gln
XM_011518142.1:c.1081G>C	XP_011516444.1:p.Glu361Gln
XM_011518143.1:c.1075G>C	XP_011516445.1:p.Glu359Gln
XM_011518144.1:c.1390G>C	XP_011516446.1:p.Glu464Gln
XM_011518145.1:c.934G>C	XP_011516447.1:p.Glu312Gln
XM_011518146.1:c.1075G>C	XP_011516448.1:p.Glu359Gln
XM_011518147.1:c.262G>C	XP_011516449.1:p.Glu88Gln
XR_929703.1:n.1566G>C
NM_001353193.1:c.1390G>C	NP_001340122.1:p.Glu464Gln
NM_001353194.1:c.1162G>C	NP_001340123.1:p.Glu388Gln
NM_001353195.1:c.973G>C	NP_001340124.1:p.Glu325Gln
NM_001353196.1:c.1234G>C	NP_001340125.1:p.Glu412Gln
NM_001353197.1:c.1228G>C	NP_001340126.1:p.Glu410Gln
NM_001353198.1:c.1228G>C	NP_001340127.1:p.Glu410Gln
NM_001353199.1:c.1039G>C	NP_001340128.1:p.Glu347Gln
NM_001353200.1:c.868G>C	NP_001340129.1:p.Glu290Gln
NR_148391.1:n.1374G>C
NR_148392.1:n.1592G>C
NR_148393.1:n.1374G>C
NR_148394.1:n.1267G>C
NR_148395.1:n.1526G>C
NR_148396.1:n.1160G>C
NR_148397.1:n.1424G>C
NR_148398.1:n.1379G>C
NR_148399.1:n.1766G>C
NR_148400.1:n.1365G>C
XM_005272162.3:c.193G>C	XP_005272219.1:p.Glu65Gln
XM_006716932.2:c.1039G>C	XP_006716995.1:p.Glu347Gln
XM_011518140.2:c.1243G>C	XP_011516442.1:p.Glu415Gln
XM_011518141.2:c.1177G>C	XP_011516443.1:p.Glu393Gln
XM_011518142.2:c.1081G>C	XP_011516444.1:p.Glu361Gln
XM_011518143.2:c.1075G>C	XP_011516445.1:p.Glu359Gln
XM_011518145.2:c.934G>C	XP_011516447.1:p.Glu312Gln
XM_017014205.2:c.193G>C	XP_016869694.1:p.Glu65Gln
XM_024447380.1:c.193G>C	XP_024303148.1:p.Glu65Gln
XM_024447381.1:c.499G>C	XP_024303149.1:p.Glu167Gln
XM_024447382.1:c.193G>C	XP_024303150.1:p.Glu65Gln
XR_001746160.2:n.1494G>C
XR_001746162.2:n.1560G>C
XR_001746164.1:n.1277G>C
XR_001746166.2:n.1711G>C
NM_001077365.2:c.1324G>C MANE Select	NP_001070833.1:p.Glu442Gln
NM_001077366.2:c.1162G>C	NP_001070834.1:p.Glu388Gln
NM_001136113.2:c.1324G>C	NP_001129585.1:p.Glu442Gln
NM_001136114.2:c.973G>C	NP_001129586.1:p.Glu325Gln
NM_001353193.2:c.1390G>C	NP_001340122.2:p.Glu464Gln
NM_001353194.2:c.1162G>C	NP_001340123.1:p.Glu388Gln
NM_001353195.2:c.973G>C	NP_001340124.1:p.Glu325Gln
NM_001353196.2:c.1234G>C	NP_001340125.1:p.Glu412Gln
NM_001353197.2:c.1228G>C	NP_001340126.2:p.Glu410Gln
NM_001353198.2:c.1228G>C	NP_001340127.2:p.Glu410Gln
NM_001353199.2:c.1039G>C	NP_001340128.2:p.Glu347Gln
NM_001353200.2:c.868G>C	NP_001340129.1:p.Glu290Gln
NM_001374689.1:c.1312G>C	NP_001361618.1:p.Glu438Gln
NM_001374690.1:c.1324G>C	NP_001361619.1:p.Glu442Gln
NM_001374691.1:c.973G>C	NP_001361620.1:p.Glu325Gln
NM_001374692.1:c.973G>C	NP_001361621.1:p.Glu325Gln
NM_001374693.1:c.973G>C	NP_001361622.1:p.Glu325Gln
NM_001374695.1:c.934G>C	NP_001361624.1:p.Glu312Gln
NM_007171.4:c.1390G>C	NP_009102.4:p.Glu464Gln
NR_148391.2:n.1358G>C
NR_148392.2:n.1576G>C
NR_148393.2:n.1358G>C
NR_148394.2:n.1251G>C
NR_148395.2:n.1510G>C
NR_148396.2:n.1144G>C
NR_148397.2:n.1408G>C
NR_148398.2:n.1363G>C
NR_148399.2:n.1750G>C
NR_148400.2:n.1349G>C