Canonical Allele Identifier: CA375310111

Gene: POMT1

Linked Data

• gnomAD v4: 9-131515496-A-C
• MyVariant Identifiers: chr9:g.134390883A>C (hg19) ; chr9:g.131515496A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131515496A>C , CM000671.2:g.131515496A>C	GRCh38
NC_000009.11:g.134390883A>C , CM000671.1:g.134390883A>C	GRCh37
NC_000009.10:g.133380704A>C	NCBI36
NG_008896.1:g.17595A>C
NG_008896.2:g.17595A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1084A>C	ENSP00000343034.7:p.Met362Leu
ENST00000404875.7:n.1786A>C
ENST00000423007.6:c.1303A>C	ENSP00000404119.2:p.Met435Leu
ENST00000677295.2:c.*1590A>C	ENSP00000504346.2:n.*1590A>C
ENST00000678264.2:c.*1429A>C	ENSP00000503157.2:n.*1429A>C
ENST00000682070.1:n.1711A>C
ENST00000682539.1:c.71A>C
ENST00000682813.1:n.1511A>C
ENST00000683392.1:n.3993A>C
ENST00000683712.1:n.1651A>C
ENST00000683900.1:n.3146A>C
ENST00000684062.1:n.1912A>C
ENST00000684579.1:n.3092A>C
ENST00000341012.12:c.1084A>C	ENSP00000343034.7:p.Met362Leu
ENST00000372220.5:c.115A>C	ENSP00000361294.5:p.Met39Leu
ENST00000372228.9:c.1312A>C	ENSP00000361302.3:p.Met438Leu
ENST00000402686.8:c.1246A>C MANE Select	ENSP00000385797.4:p.Met416Leu
ENST00000676640.1:c.1246A>C	ENSP00000503281.1:p.Met416Leu
ENST00000676803.1:c.421A>C	ENSP00000503093.1:p.Met141Leu
ENST00000676835.1:c.*461A>C	ENSP00000502911.1:n.*461A>C
ENST00000677029.1:c.790A>C	ENSP00000502936.1:p.Met264Leu
ENST00000677099.1:c.*956A>C	ENSP00000504553.1:n.*956A>C
ENST00000677216.1:c.895A>C	ENSP00000503772.1:p.Met299Leu
ENST00000677295.1:c.*623A>C	ENSP00000504346.1:n.*623A>C
ENST00000677444.1:c.1052A>C
ENST00000677586.1:n.727A>C
ENST00000677626.1:c.895A>C	ENSP00000503552.1:p.Met299Leu
ENST00000677677.1:n.1206A>C
ENST00000677853.1:c.*254A>C	ENSP00000503488.1:n.*254A>C
ENST00000677944.1:c.508A>C
ENST00000678264.1:c.*623A>C	ENSP00000503157.1:n.*623A>C
ENST00000678303.1:c.1156A>C	ENSP00000503696.1:p.Met386Leu
ENST00000678366.1:c.*1495A>C	ENSP00000504353.1:n.*1495A>C
ENST00000678546.1:c.*1191A>C	ENSP00000503062.1:n.*1191A>C
ENST00000678548.1:c.*1318A>C	ENSP00000503934.1:n.*1318A>C
ENST00000678626.1:n.943A>C
ENST00000678733.1:c.327A>C
ENST00000678739.1:c.*1572A>C	ENSP00000503806.1:n.*1572A>C
ENST00000678795.1:n.333A>C
ENST00000678833.1:c.*693A>C	ENSP00000503893.1:n.*693A>C
ENST00000678942.1:c.426A>C	ENSP00000504690.1:n.426A>C
ENST00000679023.1:c.1084A>C	ENSP00000503718.1:p.Met362Leu
ENST00000679076.1:c.865A>C
ENST00000679111.1:c.1246A>C	ENSP00000504257.1:p.Met416Leu
ENST00000679189.1:c.895A>C	ENSP00000503356.1:p.Met299Leu
ENST00000341012.11:c.1084A>C	ENSP00000343034.7:p.Met362Leu
ENST00000372228.7:c.1312A>C	ENSP00000361302.3:p.Met438Leu
ENST00000402686.7:c.1246A>C	ENSP00000385797.3:p.Met416Leu
ENST00000404875.6:c.895A>C	ENSP00000384531.2:p.Met299Leu
ENST00000423007.5:c.1246A>C	ENSP00000404119.1:p.Met416Leu
ENST00000485278.5:n.1801A>C
NM_001077365.1:c.1246A>C	NP_001070833.1:p.Met416Leu
NM_001077366.1:c.1084A>C	NP_001070834.1:p.Met362Leu
NM_001136113.1:c.1246A>C	NP_001129585.1:p.Met416Leu
NM_001136114.1:c.895A>C	NP_001129586.1:p.Met299Leu
NM_007171.3:c.1312A>C	NP_009102.3:p.Met438Leu
XM_005272156.1:c.1312A>C	XP_005272213.1:p.Met438Leu
XM_005272158.1:c.1150A>C	XP_005272215.1:p.Met384Leu
XM_005272159.1:c.961A>C	XP_005272216.1:p.Met321Leu
XM_005272162.1:c.115A>C	XP_005272219.1:p.Met39Leu
XM_006716932.1:c.961A>C	XP_006716995.1:p.Met321Leu
XM_011518140.1:c.1165A>C	XP_011516442.1:p.Met389Leu
XM_011518141.1:c.1099A>C	XP_011516443.1:p.Met367Leu
XM_011518142.1:c.1003A>C	XP_011516444.1:p.Met335Leu
XM_011518143.1:c.997A>C	XP_011516445.1:p.Met333Leu
XM_011518144.1:c.1312A>C	XP_011516446.1:p.Met438Leu
XM_011518145.1:c.856A>C	XP_011516447.1:p.Met286Leu
XM_011518146.1:c.997A>C	XP_011516448.1:p.Met333Leu
XR_929703.1:n.1488A>C
NM_001353193.1:c.1312A>C	NP_001340122.1:p.Met438Leu
NM_001353194.1:c.1084A>C	NP_001340123.1:p.Met362Leu
NM_001353195.1:c.895A>C	NP_001340124.1:p.Met299Leu
NM_001353196.1:c.1156A>C	NP_001340125.1:p.Met386Leu
NM_001353197.1:c.1150A>C	NP_001340126.1:p.Met384Leu
NM_001353198.1:c.1150A>C	NP_001340127.1:p.Met384Leu
NM_001353199.1:c.961A>C	NP_001340128.1:p.Met321Leu
NM_001353200.1:c.790A>C	NP_001340129.1:p.Met264Leu
NR_148391.1:n.1296A>C
NR_148392.1:n.1514A>C
NR_148393.1:n.1296A>C
NR_148394.1:n.1189A>C
NR_148395.1:n.1448A>C
NR_148396.1:n.1082A>C
NR_148397.1:n.1346A>C
NR_148398.1:n.1301A>C
NR_148399.1:n.1688A>C
NR_148400.1:n.1287A>C
XM_005272162.3:c.115A>C	XP_005272219.1:p.Met39Leu
XM_006716932.2:c.961A>C	XP_006716995.1:p.Met321Leu
XM_011518140.2:c.1165A>C	XP_011516442.1:p.Met389Leu
XM_011518141.2:c.1099A>C	XP_011516443.1:p.Met367Leu
XM_011518142.2:c.1003A>C	XP_011516444.1:p.Met335Leu
XM_011518143.2:c.997A>C	XP_011516445.1:p.Met333Leu
XM_011518145.2:c.856A>C	XP_011516447.1:p.Met286Leu
XM_017014205.2:c.115A>C	XP_016869694.1:p.Met39Leu
XM_024447380.1:c.115A>C	XP_024303148.1:p.Met39Leu
XM_024447381.1:c.421A>C	XP_024303149.1:p.Met141Leu
XM_024447382.1:c.115A>C	XP_024303150.1:p.Met39Leu
XR_001746160.2:n.1416A>C
XR_001746162.2:n.1482A>C
XR_001746164.1:n.1199A>C
XR_001746166.2:n.1633A>C
NM_001077365.2:c.1246A>C MANE Select	NP_001070833.1:p.Met416Leu
NM_001077366.2:c.1084A>C	NP_001070834.1:p.Met362Leu
NM_001136113.2:c.1246A>C	NP_001129585.1:p.Met416Leu
NM_001136114.2:c.895A>C	NP_001129586.1:p.Met299Leu
NM_001353193.2:c.1312A>C	NP_001340122.2:p.Met438Leu
NM_001353194.2:c.1084A>C	NP_001340123.1:p.Met362Leu
NM_001353195.2:c.895A>C	NP_001340124.1:p.Met299Leu
NM_001353196.2:c.1156A>C	NP_001340125.1:p.Met386Leu
NM_001353197.2:c.1150A>C	NP_001340126.2:p.Met384Leu
NM_001353198.2:c.1150A>C	NP_001340127.2:p.Met384Leu
NM_001353199.2:c.961A>C	NP_001340128.2:p.Met321Leu
NM_001353200.2:c.790A>C	NP_001340129.1:p.Met264Leu
NM_001374689.1:c.1234A>C	NP_001361618.1:p.Met412Leu
NM_001374690.1:c.1246A>C	NP_001361619.1:p.Met416Leu
NM_001374691.1:c.895A>C	NP_001361620.1:p.Met299Leu
NM_001374692.1:c.895A>C	NP_001361621.1:p.Met299Leu
NM_001374693.1:c.895A>C	NP_001361622.1:p.Met299Leu
NM_001374695.1:c.856A>C	NP_001361624.1:p.Met286Leu
NM_007171.4:c.1312A>C	NP_009102.4:p.Met438Leu
NR_148391.2:n.1280A>C
NR_148392.2:n.1498A>C
NR_148393.2:n.1280A>C
NR_148394.2:n.1173A>C
NR_148395.2:n.1432A>C
NR_148396.2:n.1066A>C
NR_148397.2:n.1330A>C
NR_148398.2:n.1285A>C
NR_148399.2:n.1672A>C
NR_148400.2:n.1271A>C