Canonical Allele Identifier: CA1881756560

Gene: POMT1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131515445C= , CM000671.2:g.131515445C=	GRCh38
NC_000009.11:g.134390832C= , CM000671.1:g.134390832C=	GRCh37
NC_000009.10:g.133380653C=	NCBI36
NG_008896.1:g.17544C=
NG_008896.2:g.17544C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1033C=	ENSP00000343034.7:p.Leu345=
ENST00000404875.7:n.1735C=
ENST00000423007.6:c.1252C=	ENSP00000404119.2:p.Leu418=
ENST00000677295.2:c.*1539C=	ENSP00000504346.2:n.*1539C=
ENST00000678264.2:c.*1378C=	ENSP00000503157.2:n.*1378C=
ENST00000682070.1:n.1660C=
ENST00000682539.1:c.20C=
ENST00000682813.1:n.1460C=
ENST00000683392.1:n.3942C=
ENST00000683712.1:n.1600C=
ENST00000683900.1:n.3095C=
ENST00000684062.1:n.1861C=
ENST00000684579.1:n.3041C=
ENST00000341012.12:c.1033C=	ENSP00000343034.7:p.Leu345=
ENST00000372220.5:c.64C=	ENSP00000361294.5:p.Leu22=
ENST00000372228.9:c.1261C=	ENSP00000361302.3:p.Leu421=
ENST00000402686.8:c.1195C= MANE Select	ENSP00000385797.4:p.Leu399=
ENST00000676640.1:c.1195C=	ENSP00000503281.1:p.Leu399=
ENST00000676803.1:c.370C=	ENSP00000503093.1:p.Leu124=
ENST00000676835.1:c.*410C=	ENSP00000502911.1:n.*410C=
ENST00000677029.1:c.739C=	ENSP00000502936.1:p.Leu247=
ENST00000677099.1:c.*905C=	ENSP00000504553.1:n.*905C=
ENST00000677216.1:c.844C=	ENSP00000503772.1:p.Leu282=
ENST00000677293.1:c.370C=	ENSP00000504278.1:p.Leu124=
ENST00000677295.1:c.*572C=	ENSP00000504346.1:n.*572C=
ENST00000677444.1:c.1001C=
ENST00000677586.1:n.676C=
ENST00000677626.1:c.844C=	ENSP00000503552.1:p.Leu282=
ENST00000677677.1:n.1155C=
ENST00000677853.1:c.*203C=	ENSP00000503488.1:n.*203C=
ENST00000677944.1:c.457C=
ENST00000678264.1:c.*572C=	ENSP00000503157.1:n.*572C=
ENST00000678303.1:c.1105C=	ENSP00000503696.1:p.Leu369=
ENST00000678366.1:c.*1444C=	ENSP00000504353.1:n.*1444C=
ENST00000678546.1:c.*1140C=	ENSP00000503062.1:n.*1140C=
ENST00000678548.1:c.*1267C=	ENSP00000503934.1:n.*1267C=
ENST00000678626.1:n.892C=
ENST00000678733.1:c.276C=
ENST00000678739.1:c.*1521C=	ENSP00000503806.1:n.*1521C=
ENST00000678795.1:n.282C=
ENST00000678833.1:c.*642C=	ENSP00000503893.1:n.*642C=
ENST00000678942.1:c.375C=	ENSP00000504690.1:n.375C=
ENST00000679023.1:c.1033C=	ENSP00000503718.1:p.Leu345=
ENST00000679076.1:c.814C=
ENST00000679111.1:c.1195C=	ENSP00000504257.1:p.Leu399=
ENST00000679189.1:c.844C=	ENSP00000503356.1:p.Leu282=
ENST00000341012.11:c.1033C=	ENSP00000343034.7:p.Leu345=
ENST00000372228.7:c.1261C=	ENSP00000361302.3:p.Leu421=
ENST00000402686.7:c.1195C=	ENSP00000385797.3:p.Leu399=
ENST00000404875.6:c.844C=	ENSP00000384531.2:p.Leu282=
ENST00000423007.5:c.1195C=	ENSP00000404119.1:p.Leu399=
ENST00000485278.5:n.1750C=
NM_001077365.1:c.1195C=	NP_001070833.1:p.Leu399=
NM_001077366.1:c.1033C=	NP_001070834.1:p.Leu345=
NM_001136113.1:c.1195C=	NP_001129585.1:p.Leu399=
NM_001136114.1:c.844C=	NP_001129586.1:p.Leu282=
NM_007171.3:c.1261C=	NP_009102.3:p.Leu421=
XM_005272156.1:c.1261C=	XP_005272213.1:p.Leu421=
XM_005272158.1:c.1099C=	XP_005272215.1:p.Leu367=
XM_005272159.1:c.910C=	XP_005272216.1:p.Leu304=
XM_005272162.1:c.64C=	XP_005272219.1:p.Leu22=
XM_006716932.1:c.910C=	XP_006716995.1:p.Leu304=
XM_011518140.1:c.1114C=	XP_011516442.1:p.Leu372=
XM_011518141.1:c.1048C=	XP_011516443.1:p.Leu350=
XM_011518142.1:c.952C=	XP_011516444.1:p.Leu318=
XM_011518143.1:c.946C=	XP_011516445.1:p.Leu316=
XM_011518144.1:c.1261C=	XP_011516446.1:p.Leu421=
XM_011518145.1:c.805C=	XP_011516447.1:p.Leu269=
XM_011518146.1:c.946C=	XP_011516448.1:p.Leu316=
XR_929703.1:n.1437C=
NM_001353193.1:c.1261C=	NP_001340122.1:p.Leu421=
NM_001353194.1:c.1033C=	NP_001340123.1:p.Leu345=
NM_001353195.1:c.844C=	NP_001340124.1:p.Leu282=
NM_001353196.1:c.1105C=	NP_001340125.1:p.Leu369=
NM_001353197.1:c.1099C=	NP_001340126.1:p.Leu367=
NM_001353198.1:c.1099C=	NP_001340127.1:p.Leu367=
NM_001353199.1:c.910C=	NP_001340128.1:p.Leu304=
NM_001353200.1:c.739C=	NP_001340129.1:p.Leu247=
NR_148391.1:n.1245C=
NR_148392.1:n.1463C=
NR_148393.1:n.1245C=
NR_148394.1:n.1138C=
NR_148395.1:n.1397C=
NR_148396.1:n.1031C=
NR_148397.1:n.1295C=
NR_148398.1:n.1250C=
NR_148399.1:n.1637C=
NR_148400.1:n.1236C=
XM_005272162.3:c.64C=	XP_005272219.1:p.Leu22=
XM_006716932.2:c.910C=	XP_006716995.1:p.Leu304=
XM_011518140.2:c.1114C=	XP_011516442.1:p.Leu372=
XM_011518141.2:c.1048C=	XP_011516443.1:p.Leu350=
XM_011518142.2:c.952C=	XP_011516444.1:p.Leu318=
XM_011518143.2:c.946C=	XP_011516445.1:p.Leu316=
XM_011518145.2:c.805C=	XP_011516447.1:p.Leu269=
XM_017014205.2:c.64C=	XP_016869694.1:p.Leu22=
XM_024447380.1:c.64C=	XP_024303148.1:p.Leu22=
XM_024447381.1:c.370C=	XP_024303149.1:p.Leu124=
XM_024447382.1:c.64C=	XP_024303150.1:p.Leu22=
XR_001746160.2:n.1365C=
XR_001746162.2:n.1431C=
XR_001746164.1:n.1148C=
XR_001746166.2:n.1582C=
NM_001077365.2:c.1195C= MANE Select	NP_001070833.1:p.Leu399=
NM_001077366.2:c.1033C=	NP_001070834.1:p.Leu345=
NM_001136113.2:c.1195C=	NP_001129585.1:p.Leu399=
NM_001136114.2:c.844C=	NP_001129586.1:p.Leu282=
NM_001353193.2:c.1261C=	NP_001340122.2:p.Leu421=
NM_001353194.2:c.1033C=	NP_001340123.1:p.Leu345=
NM_001353195.2:c.844C=	NP_001340124.1:p.Leu282=
NM_001353196.2:c.1105C=	NP_001340125.1:p.Leu369=
NM_001353197.2:c.1099C=	NP_001340126.2:p.Leu367=
NM_001353198.2:c.1099C=	NP_001340127.2:p.Leu367=
NM_001353199.2:c.910C=	NP_001340128.2:p.Leu304=
NM_001353200.2:c.739C=	NP_001340129.1:p.Leu247=
NM_001374689.1:c.1183C=	NP_001361618.1:p.Leu395=
NM_001374690.1:c.1195C=	NP_001361619.1:p.Leu399=
NM_001374691.1:c.844C=	NP_001361620.1:p.Leu282=
NM_001374692.1:c.844C=	NP_001361621.1:p.Leu282=
NM_001374693.1:c.844C=	NP_001361622.1:p.Leu282=
NM_001374695.1:c.805C=	NP_001361624.1:p.Leu269=
NM_007171.4:c.1261C=	NP_009102.4:p.Leu421=
NR_148391.2:n.1229C=
NR_148392.2:n.1447C=
NR_148393.2:n.1229C=
NR_148394.2:n.1122C=
NR_148395.2:n.1381C=
NR_148396.2:n.1015C=
NR_148397.2:n.1279C=
NR_148398.2:n.1234C=
NR_148399.2:n.1621C=
NR_148400.2:n.1220C=