Canonical Allele Identifier: CA375309888

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134390847C>G (hg19) ; chr9:g.131515460C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131515460C>G , CM000671.2:g.131515460C>G	GRCh38
NC_000009.11:g.134390847C>G , CM000671.1:g.134390847C>G	GRCh37
NC_000009.10:g.133380668C>G	NCBI36
NG_008896.1:g.17559C>G
NG_008896.2:g.17559C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1048C>G	ENSP00000343034.7:p.Gln350Glu
ENST00000404875.7:n.1750C>G
ENST00000423007.6:c.1267C>G	ENSP00000404119.2:p.Gln423Glu
ENST00000677295.2:c.*1554C>G	ENSP00000504346.2:n.*1554C>G
ENST00000678264.2:c.*1393C>G	ENSP00000503157.2:n.*1393C>G
ENST00000682070.1:n.1675C>G
ENST00000682539.1:c.35C>G
ENST00000682813.1:n.1475C>G
ENST00000683392.1:n.3957C>G
ENST00000683712.1:n.1615C>G
ENST00000683900.1:n.3110C>G
ENST00000684062.1:n.1876C>G
ENST00000684579.1:n.3056C>G
ENST00000341012.12:c.1048C>G	ENSP00000343034.7:p.Gln350Glu
ENST00000372220.5:c.79C>G	ENSP00000361294.5:p.Gln27Glu
ENST00000372228.9:c.1276C>G	ENSP00000361302.3:p.Gln426Glu
ENST00000402686.8:c.1210C>G MANE Select	ENSP00000385797.4:p.Gln404Glu
ENST00000676640.1:c.1210C>G	ENSP00000503281.1:p.Gln404Glu
ENST00000676803.1:c.385C>G	ENSP00000503093.1:p.Gln129Glu
ENST00000676835.1:c.*425C>G	ENSP00000502911.1:n.*425C>G
ENST00000677029.1:c.754C>G	ENSP00000502936.1:p.Gln252Glu
ENST00000677099.1:c.*920C>G	ENSP00000504553.1:n.*920C>G
ENST00000677216.1:c.859C>G	ENSP00000503772.1:p.Gln287Glu
ENST00000677293.1:c.385C>G	ENSP00000504278.1:p.Gln129Glu
ENST00000677295.1:c.*587C>G	ENSP00000504346.1:n.*587C>G
ENST00000677444.1:c.1016C>G
ENST00000677586.1:n.691C>G
ENST00000677626.1:c.859C>G	ENSP00000503552.1:p.Gln287Glu
ENST00000677677.1:n.1170C>G
ENST00000677853.1:c.*218C>G	ENSP00000503488.1:n.*218C>G
ENST00000677944.1:c.472C>G
ENST00000678264.1:c.*587C>G	ENSP00000503157.1:n.*587C>G
ENST00000678303.1:c.1120C>G	ENSP00000503696.1:p.Gln374Glu
ENST00000678366.1:c.*1459C>G	ENSP00000504353.1:n.*1459C>G
ENST00000678546.1:c.*1155C>G	ENSP00000503062.1:n.*1155C>G
ENST00000678548.1:c.*1282C>G	ENSP00000503934.1:n.*1282C>G
ENST00000678626.1:n.907C>G
ENST00000678733.1:c.291C>G
ENST00000678739.1:c.*1536C>G	ENSP00000503806.1:n.*1536C>G
ENST00000678795.1:n.297C>G
ENST00000678833.1:c.*657C>G	ENSP00000503893.1:n.*657C>G
ENST00000678942.1:c.390C>G	ENSP00000504690.1:n.390C>G
ENST00000679023.1:c.1048C>G	ENSP00000503718.1:p.Gln350Glu
ENST00000679076.1:c.829C>G
ENST00000679111.1:c.1210C>G	ENSP00000504257.1:p.Gln404Glu
ENST00000679189.1:c.859C>G	ENSP00000503356.1:p.Gln287Glu
ENST00000341012.11:c.1048C>G	ENSP00000343034.7:p.Gln350Glu
ENST00000372228.7:c.1276C>G	ENSP00000361302.3:p.Gln426Glu
ENST00000402686.7:c.1210C>G	ENSP00000385797.3:p.Gln404Glu
ENST00000404875.6:c.859C>G	ENSP00000384531.2:p.Gln287Glu
ENST00000423007.5:c.1210C>G	ENSP00000404119.1:p.Gln404Glu
ENST00000485278.5:n.1765C>G
NM_001077365.1:c.1210C>G	NP_001070833.1:p.Gln404Glu
NM_001077366.1:c.1048C>G	NP_001070834.1:p.Gln350Glu
NM_001136113.1:c.1210C>G	NP_001129585.1:p.Gln404Glu
NM_001136114.1:c.859C>G	NP_001129586.1:p.Gln287Glu
NM_007171.3:c.1276C>G	NP_009102.3:p.Gln426Glu
XM_005272156.1:c.1276C>G	XP_005272213.1:p.Gln426Glu
XM_005272158.1:c.1114C>G	XP_005272215.1:p.Gln372Glu
XM_005272159.1:c.925C>G	XP_005272216.1:p.Gln309Glu
XM_005272162.1:c.79C>G	XP_005272219.1:p.Gln27Glu
XM_006716932.1:c.925C>G	XP_006716995.1:p.Gln309Glu
XM_011518140.1:c.1129C>G	XP_011516442.1:p.Gln377Glu
XM_011518141.1:c.1063C>G	XP_011516443.1:p.Gln355Glu
XM_011518142.1:c.967C>G	XP_011516444.1:p.Gln323Glu
XM_011518143.1:c.961C>G	XP_011516445.1:p.Gln321Glu
XM_011518144.1:c.1276C>G	XP_011516446.1:p.Gln426Glu
XM_011518145.1:c.820C>G	XP_011516447.1:p.Gln274Glu
XM_011518146.1:c.961C>G	XP_011516448.1:p.Gln321Glu
XR_929703.1:n.1452C>G
NM_001353193.1:c.1276C>G	NP_001340122.1:p.Gln426Glu
NM_001353194.1:c.1048C>G	NP_001340123.1:p.Gln350Glu
NM_001353195.1:c.859C>G	NP_001340124.1:p.Gln287Glu
NM_001353196.1:c.1120C>G	NP_001340125.1:p.Gln374Glu
NM_001353197.1:c.1114C>G	NP_001340126.1:p.Gln372Glu
NM_001353198.1:c.1114C>G	NP_001340127.1:p.Gln372Glu
NM_001353199.1:c.925C>G	NP_001340128.1:p.Gln309Glu
NM_001353200.1:c.754C>G	NP_001340129.1:p.Gln252Glu
NR_148391.1:n.1260C>G
NR_148392.1:n.1478C>G
NR_148393.1:n.1260C>G
NR_148394.1:n.1153C>G
NR_148395.1:n.1412C>G
NR_148396.1:n.1046C>G
NR_148397.1:n.1310C>G
NR_148398.1:n.1265C>G
NR_148399.1:n.1652C>G
NR_148400.1:n.1251C>G
XM_005272162.3:c.79C>G	XP_005272219.1:p.Gln27Glu
XM_006716932.2:c.925C>G	XP_006716995.1:p.Gln309Glu
XM_011518140.2:c.1129C>G	XP_011516442.1:p.Gln377Glu
XM_011518141.2:c.1063C>G	XP_011516443.1:p.Gln355Glu
XM_011518142.2:c.967C>G	XP_011516444.1:p.Gln323Glu
XM_011518143.2:c.961C>G	XP_011516445.1:p.Gln321Glu
XM_011518145.2:c.820C>G	XP_011516447.1:p.Gln274Glu
XM_017014205.2:c.79C>G	XP_016869694.1:p.Gln27Glu
XM_024447380.1:c.79C>G	XP_024303148.1:p.Gln27Glu
XM_024447381.1:c.385C>G	XP_024303149.1:p.Gln129Glu
XM_024447382.1:c.79C>G	XP_024303150.1:p.Gln27Glu
XR_001746160.2:n.1380C>G
XR_001746162.2:n.1446C>G
XR_001746164.1:n.1163C>G
XR_001746166.2:n.1597C>G
NM_001077365.2:c.1210C>G MANE Select	NP_001070833.1:p.Gln404Glu
NM_001077366.2:c.1048C>G	NP_001070834.1:p.Gln350Glu
NM_001136113.2:c.1210C>G	NP_001129585.1:p.Gln404Glu
NM_001136114.2:c.859C>G	NP_001129586.1:p.Gln287Glu
NM_001353193.2:c.1276C>G	NP_001340122.2:p.Gln426Glu
NM_001353194.2:c.1048C>G	NP_001340123.1:p.Gln350Glu
NM_001353195.2:c.859C>G	NP_001340124.1:p.Gln287Glu
NM_001353196.2:c.1120C>G	NP_001340125.1:p.Gln374Glu
NM_001353197.2:c.1114C>G	NP_001340126.2:p.Gln372Glu
NM_001353198.2:c.1114C>G	NP_001340127.2:p.Gln372Glu
NM_001353199.2:c.925C>G	NP_001340128.2:p.Gln309Glu
NM_001353200.2:c.754C>G	NP_001340129.1:p.Gln252Glu
NM_001374689.1:c.1198C>G	NP_001361618.1:p.Gln400Glu
NM_001374690.1:c.1210C>G	NP_001361619.1:p.Gln404Glu
NM_001374691.1:c.859C>G	NP_001361620.1:p.Gln287Glu
NM_001374692.1:c.859C>G	NP_001361621.1:p.Gln287Glu
NM_001374693.1:c.859C>G	NP_001361622.1:p.Gln287Glu
NM_001374695.1:c.820C>G	NP_001361624.1:p.Gln274Glu
NM_007171.4:c.1276C>G	NP_009102.4:p.Gln426Glu
NR_148391.2:n.1244C>G
NR_148392.2:n.1462C>G
NR_148393.2:n.1244C>G
NR_148394.2:n.1137C>G
NR_148395.2:n.1396C>G
NR_148396.2:n.1030C>G
NR_148397.2:n.1294C>G
NR_148398.2:n.1249C>G
NR_148399.2:n.1636C>G
NR_148400.2:n.1235C>G