Canonical Allele Identifier: CA1881751817

Gene: POMT1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131518474C= , CM000671.2:g.131518474C=	GRCh38
NC_000009.11:g.134393861C= , CM000671.1:g.134393861C=	GRCh37
NC_000009.10:g.133383682C=	NCBI36
NG_008896.1:g.20573C=
NG_008896.2:g.20573C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1140C=	ENSP00000343034.7:p.Asp380=
ENST00000404875.7:n.1842C=
ENST00000423007.6:c.1359C=	ENSP00000404119.2:p.Asp453=
ENST00000677295.2:c.*1646C=	ENSP00000504346.2:n.*1646C=
ENST00000678264.2:c.*1485C=	ENSP00000503157.2:n.*1485C=
ENST00000682070.1:n.1767C=
ENST00000682535.1:n.74C=
ENST00000682539.1:c.240C=
ENST00000682813.1:n.1567C=
ENST00000683110.1:n.30C=
ENST00000683392.1:n.4049C=
ENST00000683712.1:n.1707C=
ENST00000683900.1:n.3202C=
ENST00000684062.1:n.1968C=
ENST00000684579.1:n.3148C=
ENST00000684679.1:n.529C=
ENST00000341012.12:c.1140C=	ENSP00000343034.7:p.Asp380=
ENST00000372220.5:c.171C=	ENSP00000361294.5:p.Asp57=
ENST00000372228.9:c.1368C=	ENSP00000361302.3:p.Asp456=
ENST00000402686.8:c.1302C= MANE Select	ENSP00000385797.4:p.Asp434=
ENST00000676640.1:c.1302C=	ENSP00000503281.1:p.Asp434=
ENST00000676803.1:c.477C=	ENSP00000503093.1:p.Asp159=
ENST00000676835.1:c.*517C=	ENSP00000502911.1:n.*517C=
ENST00000677029.1:c.846C=	ENSP00000502936.1:p.Asp282=
ENST00000677099.1:c.*1012C=	ENSP00000504553.1:n.*1012C=
ENST00000677216.1:c.951C=	ENSP00000503772.1:p.Asp317=
ENST00000677221.1:n.327C=
ENST00000677295.1:c.*679C=	ENSP00000504346.1:n.*679C=
ENST00000677444.1:c.1108C=
ENST00000677586.1:n.783C=
ENST00000677626.1:c.951C=	ENSP00000503552.1:p.Asp317=
ENST00000677677.1:n.1262C=
ENST00000677853.1:c.*310C=	ENSP00000503488.1:n.*310C=
ENST00000677983.1:n.391C=
ENST00000678202.1:n.322C=
ENST00000678264.1:c.*679C=	ENSP00000503157.1:n.*679C=
ENST00000678303.1:c.1212C=	ENSP00000503696.1:p.Asp404=
ENST00000678366.1:c.*1551C=	ENSP00000504353.1:n.*1551C=
ENST00000678546.1:c.*1247C=	ENSP00000503062.1:n.*1247C=
ENST00000678548.1:c.*1374C=	ENSP00000503934.1:n.*1374C=
ENST00000678626.1:n.999C=
ENST00000678733.1:c.383C=
ENST00000678739.1:c.*1628C=	ENSP00000503806.1:n.*1628C=
ENST00000678795.1:n.389C=
ENST00000678833.1:c.*749C=	ENSP00000503893.1:n.*749C=
ENST00000678942.1:c.482C=	ENSP00000504690.1:n.482C=
ENST00000679023.1:c.1140C=	ENSP00000503718.1:p.Asp380=
ENST00000679076.1:c.921C=
ENST00000679111.1:c.1302C=	ENSP00000504257.1:p.Asp434=
ENST00000679189.1:c.951C=	ENSP00000503356.1:p.Asp317=
ENST00000341012.11:c.1140C=	ENSP00000343034.7:p.Asp380=
ENST00000372220.4:c.165C=	ENSP00000361294.4:p.Asp55=
ENST00000372228.7:c.1368C=	ENSP00000361302.3:p.Asp456=
ENST00000402686.7:c.1302C=	ENSP00000385797.3:p.Asp434=
ENST00000404875.6:c.951C=	ENSP00000384531.2:p.Asp317=
ENST00000423007.5:c.1302C=	ENSP00000404119.1:p.Asp434=
ENST00000485278.5:n.1857C=
NM_001077365.1:c.1302C=	NP_001070833.1:p.Asp434=
NM_001077366.1:c.1140C=	NP_001070834.1:p.Asp380=
NM_001136113.1:c.1302C=	NP_001129585.1:p.Asp434=
NM_001136114.1:c.951C=	NP_001129586.1:p.Asp317=
NM_007171.3:c.1368C=	NP_009102.3:p.Asp456=
XM_005272156.1:c.1368C=	XP_005272213.1:p.Asp456=
XM_005272158.1:c.1206C=	XP_005272215.1:p.Asp402=
XM_005272159.1:c.1017C=	XP_005272216.1:p.Asp339=
XM_005272162.1:c.171C=	XP_005272219.1:p.Asp57=
XM_006716932.1:c.1017C=	XP_006716995.1:p.Asp339=
XM_011518140.1:c.1221C=	XP_011516442.1:p.Asp407=
XM_011518141.1:c.1155C=	XP_011516443.1:p.Asp385=
XM_011518142.1:c.1059C=	XP_011516444.1:p.Asp353=
XM_011518143.1:c.1053C=	XP_011516445.1:p.Asp351=
XM_011518144.1:c.1368C=	XP_011516446.1:p.Asp456=
XM_011518145.1:c.912C=	XP_011516447.1:p.Asp304=
XM_011518146.1:c.1053C=	XP_011516448.1:p.Asp351=
XM_011518147.1:c.240C=	XP_011516449.1:p.Asp80=
XR_929703.1:n.1544C=
NM_001353193.1:c.1368C=	NP_001340122.1:p.Asp456=
NM_001353194.1:c.1140C=	NP_001340123.1:p.Asp380=
NM_001353195.1:c.951C=	NP_001340124.1:p.Asp317=
NM_001353196.1:c.1212C=	NP_001340125.1:p.Asp404=
NM_001353197.1:c.1206C=	NP_001340126.1:p.Asp402=
NM_001353198.1:c.1206C=	NP_001340127.1:p.Asp402=
NM_001353199.1:c.1017C=	NP_001340128.1:p.Asp339=
NM_001353200.1:c.846C=	NP_001340129.1:p.Asp282=
NR_148391.1:n.1352C=
NR_148392.1:n.1570C=
NR_148393.1:n.1352C=
NR_148394.1:n.1245C=
NR_148395.1:n.1504C=
NR_148396.1:n.1138C=
NR_148397.1:n.1402C=
NR_148398.1:n.1357C=
NR_148399.1:n.1744C=
NR_148400.1:n.1343C=
XM_005272162.3:c.171C=	XP_005272219.1:p.Asp57=
XM_006716932.2:c.1017C=	XP_006716995.1:p.Asp339=
XM_011518140.2:c.1221C=	XP_011516442.1:p.Asp407=
XM_011518141.2:c.1155C=	XP_011516443.1:p.Asp385=
XM_011518142.2:c.1059C=	XP_011516444.1:p.Asp353=
XM_011518143.2:c.1053C=	XP_011516445.1:p.Asp351=
XM_011518145.2:c.912C=	XP_011516447.1:p.Asp304=
XM_017014205.2:c.171C=	XP_016869694.1:p.Asp57=
XM_024447380.1:c.171C=	XP_024303148.1:p.Asp57=
XM_024447381.1:c.477C=	XP_024303149.1:p.Asp159=
XM_024447382.1:c.171C=	XP_024303150.1:p.Asp57=
XR_001746160.2:n.1472C=
XR_001746162.2:n.1538C=
XR_001746164.1:n.1255C=
XR_001746166.2:n.1689C=
NM_001077365.2:c.1302C= MANE Select	NP_001070833.1:p.Asp434=
NM_001077366.2:c.1140C=	NP_001070834.1:p.Asp380=
NM_001136113.2:c.1302C=	NP_001129585.1:p.Asp434=
NM_001136114.2:c.951C=	NP_001129586.1:p.Asp317=
NM_001353193.2:c.1368C=	NP_001340122.2:p.Asp456=
NM_001353194.2:c.1140C=	NP_001340123.1:p.Asp380=
NM_001353195.2:c.951C=	NP_001340124.1:p.Asp317=
NM_001353196.2:c.1212C=	NP_001340125.1:p.Asp404=
NM_001353197.2:c.1206C=	NP_001340126.2:p.Asp402=
NM_001353198.2:c.1206C=	NP_001340127.2:p.Asp402=
NM_001353199.2:c.1017C=	NP_001340128.2:p.Asp339=
NM_001353200.2:c.846C=	NP_001340129.1:p.Asp282=
NM_001374689.1:c.1290C=	NP_001361618.1:p.Asp430=
NM_001374690.1:c.1302C=	NP_001361619.1:p.Asp434=
NM_001374691.1:c.951C=	NP_001361620.1:p.Asp317=
NM_001374692.1:c.951C=	NP_001361621.1:p.Asp317=
NM_001374693.1:c.951C=	NP_001361622.1:p.Asp317=
NM_001374695.1:c.912C=	NP_001361624.1:p.Asp304=
NM_007171.4:c.1368C=	NP_009102.4:p.Asp456=
NR_148391.2:n.1336C=
NR_148392.2:n.1554C=
NR_148393.2:n.1336C=
NR_148394.2:n.1229C=
NR_148395.2:n.1488C=
NR_148396.2:n.1122C=
NR_148397.2:n.1386C=
NR_148398.2:n.1341C=
NR_148399.2:n.1728C=
NR_148400.2:n.1327C=