Canonical Allele Identifier: CA375311085

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134393838G>A (hg19) ; chr9:g.131518451G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131518451G>A , CM000671.2:g.131518451G>A	GRCh38
NC_000009.11:g.134393838G>A , CM000671.1:g.134393838G>A	GRCh37
NC_000009.10:g.133383659G>A	NCBI36
NG_008896.1:g.20550G>A
NG_008896.2:g.20550G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1117G>A	ENSP00000343034.7:p.Val373Met
ENST00000404875.7:n.1819G>A
ENST00000423007.6:c.1336G>A	ENSP00000404119.2:p.Val446Met
ENST00000677295.2:c.*1623G>A	ENSP00000504346.2:n.*1623G>A
ENST00000678264.2:c.*1462G>A	ENSP00000503157.2:n.*1462G>A
ENST00000682070.1:n.1744G>A
ENST00000682535.1:n.51G>A
ENST00000682539.1:c.217G>A
ENST00000682813.1:n.1544G>A
ENST00000683110.1:n.7G>A
ENST00000683392.1:n.4026G>A
ENST00000683712.1:n.1684G>A
ENST00000683900.1:n.3179G>A
ENST00000684062.1:n.1945G>A
ENST00000684579.1:n.3125G>A
ENST00000684679.1:n.506G>A
ENST00000341012.12:c.1117G>A	ENSP00000343034.7:p.Val373Met
ENST00000372220.5:c.148G>A	ENSP00000361294.5:p.Val50Met
ENST00000372228.9:c.1345G>A	ENSP00000361302.3:p.Val449Met
ENST00000402686.8:c.1279G>A MANE Select	ENSP00000385797.4:p.Val427Met
ENST00000676640.1:c.1279G>A	ENSP00000503281.1:p.Val427Met
ENST00000676803.1:c.454G>A	ENSP00000503093.1:p.Val152Met
ENST00000676835.1:c.*494G>A	ENSP00000502911.1:n.*494G>A
ENST00000677029.1:c.823G>A	ENSP00000502936.1:p.Val275Met
ENST00000677099.1:c.*989G>A	ENSP00000504553.1:n.*989G>A
ENST00000677216.1:c.928G>A	ENSP00000503772.1:p.Val310Met
ENST00000677221.1:n.304G>A
ENST00000677295.1:c.*656G>A	ENSP00000504346.1:n.*656G>A
ENST00000677444.1:c.1085G>A
ENST00000677586.1:n.760G>A
ENST00000677626.1:c.928G>A	ENSP00000503552.1:p.Val310Met
ENST00000677677.1:n.1239G>A
ENST00000677853.1:c.*287G>A	ENSP00000503488.1:n.*287G>A
ENST00000677944.1:c.541G>A
ENST00000677983.1:n.368G>A
ENST00000678202.1:n.299G>A
ENST00000678264.1:c.*656G>A	ENSP00000503157.1:n.*656G>A
ENST00000678303.1:c.1189G>A	ENSP00000503696.1:p.Val397Met
ENST00000678366.1:c.*1528G>A	ENSP00000504353.1:n.*1528G>A
ENST00000678546.1:c.*1224G>A	ENSP00000503062.1:n.*1224G>A
ENST00000678548.1:c.*1351G>A	ENSP00000503934.1:n.*1351G>A
ENST00000678626.1:n.976G>A
ENST00000678733.1:c.360G>A
ENST00000678739.1:c.*1605G>A	ENSP00000503806.1:n.*1605G>A
ENST00000678795.1:n.366G>A
ENST00000678833.1:c.*726G>A	ENSP00000503893.1:n.*726G>A
ENST00000678942.1:c.459G>A	ENSP00000504690.1:n.459G>A
ENST00000679023.1:c.1117G>A	ENSP00000503718.1:p.Val373Met
ENST00000679076.1:c.898G>A
ENST00000679111.1:c.1279G>A	ENSP00000504257.1:p.Val427Met
ENST00000679189.1:c.928G>A	ENSP00000503356.1:p.Val310Met
ENST00000341012.11:c.1117G>A	ENSP00000343034.7:p.Val373Met
ENST00000372220.4:c.142G>A	ENSP00000361294.4:p.Val48Met
ENST00000372228.7:c.1345G>A	ENSP00000361302.3:p.Val449Met
ENST00000402686.7:c.1279G>A	ENSP00000385797.3:p.Val427Met
ENST00000404875.6:c.928G>A	ENSP00000384531.2:p.Val310Met
ENST00000423007.5:c.1279G>A	ENSP00000404119.1:p.Val427Met
ENST00000485278.5:n.1834G>A
NM_001077365.1:c.1279G>A	NP_001070833.1:p.Val427Met
NM_001077366.1:c.1117G>A	NP_001070834.1:p.Val373Met
NM_001136113.1:c.1279G>A	NP_001129585.1:p.Val427Met
NM_001136114.1:c.928G>A	NP_001129586.1:p.Val310Met
NM_007171.3:c.1345G>A	NP_009102.3:p.Val449Met
XM_005272156.1:c.1345G>A	XP_005272213.1:p.Val449Met
XM_005272158.1:c.1183G>A	XP_005272215.1:p.Val395Met
XM_005272159.1:c.994G>A	XP_005272216.1:p.Val332Met
XM_005272162.1:c.148G>A	XP_005272219.1:p.Val50Met
XM_006716932.1:c.994G>A	XP_006716995.1:p.Val332Met
XM_011518140.1:c.1198G>A	XP_011516442.1:p.Val400Met
XM_011518141.1:c.1132G>A	XP_011516443.1:p.Val378Met
XM_011518142.1:c.1036G>A	XP_011516444.1:p.Val346Met
XM_011518143.1:c.1030G>A	XP_011516445.1:p.Val344Met
XM_011518144.1:c.1345G>A	XP_011516446.1:p.Val449Met
XM_011518145.1:c.889G>A	XP_011516447.1:p.Val297Met
XM_011518146.1:c.1030G>A	XP_011516448.1:p.Val344Met
XM_011518147.1:c.217G>A	XP_011516449.1:p.Val73Met
XR_929703.1:n.1521G>A
NM_001353193.1:c.1345G>A	NP_001340122.1:p.Val449Met
NM_001353194.1:c.1117G>A	NP_001340123.1:p.Val373Met
NM_001353195.1:c.928G>A	NP_001340124.1:p.Val310Met
NM_001353196.1:c.1189G>A	NP_001340125.1:p.Val397Met
NM_001353197.1:c.1183G>A	NP_001340126.1:p.Val395Met
NM_001353198.1:c.1183G>A	NP_001340127.1:p.Val395Met
NM_001353199.1:c.994G>A	NP_001340128.1:p.Val332Met
NM_001353200.1:c.823G>A	NP_001340129.1:p.Val275Met
NR_148391.1:n.1329G>A
NR_148392.1:n.1547G>A
NR_148393.1:n.1329G>A
NR_148394.1:n.1222G>A
NR_148395.1:n.1481G>A
NR_148396.1:n.1115G>A
NR_148397.1:n.1379G>A
NR_148398.1:n.1334G>A
NR_148399.1:n.1721G>A
NR_148400.1:n.1320G>A
XM_005272162.3:c.148G>A	XP_005272219.1:p.Val50Met
XM_006716932.2:c.994G>A	XP_006716995.1:p.Val332Met
XM_011518140.2:c.1198G>A	XP_011516442.1:p.Val400Met
XM_011518141.2:c.1132G>A	XP_011516443.1:p.Val378Met
XM_011518142.2:c.1036G>A	XP_011516444.1:p.Val346Met
XM_011518143.2:c.1030G>A	XP_011516445.1:p.Val344Met
XM_011518145.2:c.889G>A	XP_011516447.1:p.Val297Met
XM_017014205.2:c.148G>A	XP_016869694.1:p.Val50Met
XM_024447380.1:c.148G>A	XP_024303148.1:p.Val50Met
XM_024447381.1:c.454G>A	XP_024303149.1:p.Val152Met
XM_024447382.1:c.148G>A	XP_024303150.1:p.Val50Met
XR_001746160.2:n.1449G>A
XR_001746162.2:n.1515G>A
XR_001746164.1:n.1232G>A
XR_001746166.2:n.1666G>A
NM_001077365.2:c.1279G>A MANE Select	NP_001070833.1:p.Val427Met
NM_001077366.2:c.1117G>A	NP_001070834.1:p.Val373Met
NM_001136113.2:c.1279G>A	NP_001129585.1:p.Val427Met
NM_001136114.2:c.928G>A	NP_001129586.1:p.Val310Met
NM_001353193.2:c.1345G>A	NP_001340122.2:p.Val449Met
NM_001353194.2:c.1117G>A	NP_001340123.1:p.Val373Met
NM_001353195.2:c.928G>A	NP_001340124.1:p.Val310Met
NM_001353196.2:c.1189G>A	NP_001340125.1:p.Val397Met
NM_001353197.2:c.1183G>A	NP_001340126.2:p.Val395Met
NM_001353198.2:c.1183G>A	NP_001340127.2:p.Val395Met
NM_001353199.2:c.994G>A	NP_001340128.2:p.Val332Met
NM_001353200.2:c.823G>A	NP_001340129.1:p.Val275Met
NM_001374689.1:c.1267G>A	NP_001361618.1:p.Val423Met
NM_001374690.1:c.1279G>A	NP_001361619.1:p.Val427Met
NM_001374691.1:c.928G>A	NP_001361620.1:p.Val310Met
NM_001374692.1:c.928G>A	NP_001361621.1:p.Val310Met
NM_001374693.1:c.928G>A	NP_001361622.1:p.Val310Met
NM_001374695.1:c.889G>A	NP_001361624.1:p.Val297Met
NM_007171.4:c.1345G>A	NP_009102.4:p.Val449Met
NR_148391.2:n.1313G>A
NR_148392.2:n.1531G>A
NR_148393.2:n.1313G>A
NR_148394.2:n.1206G>A
NR_148395.2:n.1465G>A
NR_148396.2:n.1099G>A
NR_148397.2:n.1363G>A
NR_148398.2:n.1318G>A
NR_148399.2:n.1705G>A
NR_148400.2:n.1304G>A