Canonical Allele Identifier: CA1881761244

Gene: POMT1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131523450C= , CM000671.2:g.131523450C=	GRCh38
NC_000009.11:g.134398837C= , CM000671.1:g.134398837C=	GRCh37
NC_000009.10:g.133388658C=	NCBI36
NG_008896.1:g.25549C=
NG_008896.2:g.25549C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.*344C=	ENSP00000343034.7:n.*344C=
ENST00000404875.7:n.3062C=
ENST00000677295.2:c.*2866C=	ENSP00000504346.2:n.*2866C=
ENST00000678264.2:c.*2705C=	ENSP00000503157.2:n.*2705C=
ENST00000682070.1:n.2832C=
ENST00000682639.1:c.240-13C=
ENST00000682813.1:n.2919C=
ENST00000683231.1:c.372C=
ENST00000683392.1:n.5114C=
ENST00000683900.1:n.4422C=
ENST00000684062.1:n.3188C=
ENST00000684399.1:c.337C=
ENST00000684579.1:n.4368C=
ENST00000341012.12:c.*344C=	ENSP00000343034.7:n.*344C=
ENST00000372220.5:c.*344C=	ENSP00000361294.5:n.*344C=
ENST00000372228.9:c.*344C=	ENSP00000361302.3:n.*344C=
ENST00000402686.8:c.*344C= MANE Select	ENSP00000385797.4:n.*344C=
ENST00000676640.1:c.*344C=	ENSP00000503281.1:n.*344C=
ENST00000676803.1:c.*344C=	ENSP00000503093.1:n.*344C=
ENST00000676835.1:c.*1737C=	ENSP00000502911.1:n.*1737C=
ENST00000677099.1:c.*2232C=	ENSP00000504553.1:n.*2232C=
ENST00000677295.1:c.*1744C=	ENSP00000504346.1:n.*1744C=
ENST00000677444.1:c.2467C=
ENST00000677626.1:c.*344C=	ENSP00000503552.1:n.*344C=
ENST00000677853.1:c.*1530C=	ENSP00000503488.1:n.*1530C=
ENST00000678366.1:c.*2771C=	ENSP00000504353.1:n.*2771C=
ENST00000678546.1:c.*2467C=	ENSP00000503062.1:n.*2467C=
ENST00000678548.1:c.*2661C=	ENSP00000503934.1:n.*2661C=
ENST00000678626.1:n.2358C=
ENST00000678739.1:c.*2688C=	ENSP00000503806.1:n.*2688C=
ENST00000678833.1:c.*2274C=	ENSP00000503893.1:n.*2274C=
ENST00000679023.1:c.*168C=	ENSP00000503718.1:n.*168C=
ENST00000679076.1:c.2141C=
ENST00000679111.1:c.*1278C=	ENSP00000504257.1:n.*1278C=
ENST00000341012.11:c.*344C=	ENSP00000343034.7:n.*344C=
ENST00000372220.4:c.1385C=	ENSP00000361294.4:n.1385C=
ENST00000372228.7:c.*344C=	ENSP00000361302.3:n.*344C=
ENST00000402686.7:c.*344C=	ENSP00000385797.3:n.*344C=
ENST00000404875.6:c.*344C=	ENSP00000384531.2:n.*344C=
ENST00000423007.5:c.*344C=	ENSP00000404119.1:n.*344C=
ENST00000485278.5:n.3072C=
NM_001077365.1:c.*344C=	NP_001070833.1:n.*344C=
NM_001077366.1:c.*344C=	NP_001070834.1:n.*344C=
NM_001136113.1:c.*344C=	NP_001129585.1:n.*344C=
NM_001136114.1:c.*344C=	NP_001129586.1:n.*344C=
NM_007171.3:c.*344C=	NP_009102.3:n.*344C=
XM_005272156.1:c.*344C=	XP_005272213.1:n.*344C=
XM_005272158.1:c.*344C=	XP_005272215.1:n.*344C=
XM_005272159.1:c.*344C=	XP_005272216.1:n.*344C=
XM_005272162.1:c.*344C=	XP_005272219.1:n.*344C=
XM_006716932.1:c.*344C=	XP_006716995.1:n.*344C=
XM_011518140.1:c.*344C=	XP_011516442.1:n.*344C=
XM_011518141.1:c.*344C=	XP_011516443.1:n.*344C=
XM_011518142.1:c.*344C=	XP_011516444.1:n.*344C=
XM_011518143.1:c.*344C=	XP_011516445.1:n.*344C=
XM_011518145.1:c.*344C=	XP_011516447.1:n.*344C=
XM_011518147.1:c.*344C=	XP_011516449.1:n.*344C=
XR_929703.1:n.2588C=
NM_001353193.1:c.*344C=	NP_001340122.1:n.*344C=
NM_001353194.1:c.*344C=	NP_001340123.1:n.*344C=
NM_001353195.1:c.*344C=	NP_001340124.1:n.*344C=
NM_001353196.1:c.*344C=	NP_001340125.1:n.*344C=
NM_001353197.1:c.*344C=	NP_001340126.1:n.*344C=
NM_001353198.1:c.*344C=	NP_001340127.1:n.*344C=
NM_001353199.1:c.*344C=	NP_001340128.1:n.*344C=
NM_001353200.1:c.*344C=	NP_001340129.1:n.*344C=
NR_148391.1:n.2396C=
NR_148392.1:n.2614C=
NR_148393.1:n.2711C=
NR_148394.1:n.2465C=
NR_148395.1:n.2863C=
NR_148396.1:n.2497C=
NR_148397.1:n.2622C=
NR_148398.1:n.2577C=
NR_148399.1:n.2927C=
NR_148400.1:n.2702C=
XM_005272162.3:c.*344C=	XP_005272219.1:n.*344C=
XM_006716932.2:c.*344C=	XP_006716995.1:n.*344C=
XM_011518140.2:c.*344C=	XP_011516442.1:n.*344C=
XM_011518141.2:c.*344C=	XP_011516443.1:n.*344C=
XM_011518142.2:c.*344C=	XP_011516444.1:n.*344C=
XM_011518143.2:c.*344C=	XP_011516445.1:n.*344C=
XM_011518145.2:c.*344C=	XP_011516447.1:n.*344C=
XM_017014205.2:c.*344C=	XP_016869694.1:n.*344C=
XM_024447380.1:c.*344C=	XP_024303148.1:n.*344C=
XM_024447381.1:c.*344C=	XP_024303149.1:n.*344C=
XM_024447382.1:c.*344C=	XP_024303150.1:n.*344C=
XR_001746160.2:n.2516C=
XR_001746162.2:n.2897C=
XR_001746164.1:n.2614C=
XR_001746166.2:n.2733C=
NM_001077365.2:c.*344C= MANE Select	NP_001070833.1:n.*344C=
NM_001077366.2:c.*344C=	NP_001070834.1:n.*344C=
NM_001136113.2:c.*344C=	NP_001129585.1:n.*344C=
NM_001136114.2:c.*344C=	NP_001129586.1:n.*344C=
NM_001353193.2:c.*344C=	NP_001340122.2:n.*344C=
NM_001353194.2:c.*344C=	NP_001340123.1:n.*344C=
NM_001353195.2:c.*344C=	NP_001340124.1:n.*344C=
NM_001353196.2:c.*344C=	NP_001340125.1:n.*344C=
NM_001353197.2:c.*344C=	NP_001340126.2:n.*344C=
NM_001353198.2:c.*344C=	NP_001340127.2:n.*344C=
NM_001353199.2:c.*344C=	NP_001340128.2:n.*344C=
NM_001353200.2:c.*344C=	NP_001340129.1:n.*344C=
NM_001374689.1:c.*344C=	NP_001361618.1:n.*344C=
NM_001374690.1:c.*344C=	NP_001361619.1:n.*344C=
NM_001374691.1:c.*344C=	NP_001361620.1:n.*344C=
NM_001374692.1:c.*344C=	NP_001361621.1:n.*344C=
NM_001374693.1:c.*344C=	NP_001361622.1:n.*344C=
NM_001374695.1:c.*344C=	NP_001361624.1:n.*344C=
NM_007171.4:c.*344C=	NP_009102.4:n.*344C=
NR_148391.2:n.2380C=
NR_148392.2:n.2598C=
NR_148393.2:n.2695C=
NR_148394.2:n.2449C=
NR_148395.2:n.2847C=
NR_148396.2:n.2481C=
NR_148397.2:n.2606C=
NR_148398.2:n.2561C=
NR_148399.2:n.2911C=
NR_148400.2:n.2686C=