Canonical Allele Identifier: CA2692223709

Gene: POMT1

Linked Data

• gnomAD v4: 9-131523524-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131523524C>A , CM000671.2:g.131523524C>A	GRCh38
NC_000009.11:g.134398911C>A , CM000671.1:g.134398911C>A	GRCh37
NC_000009.10:g.133388732C>A	NCBI36
NG_008896.1:g.25623C>A
NG_008896.2:g.25623C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.*418C>A	ENSP00000343034.7:n.*418C>A
ENST00000404875.7:n.3136C>A
ENST00000677295.2:c.*2940C>A	ENSP00000504346.2:n.*2940C>A
ENST00000678264.2:c.*2779C>A	ENSP00000503157.2:n.*2779C>A
ENST00000682070.1:n.2906C>A
ENST00000682639.1:c.301C>A
ENST00000682813.1:n.2993C>A
ENST00000683231.1:c.446C>A
ENST00000683392.1:n.5188C>A
ENST00000683900.1:n.4496C>A
ENST00000684062.1:n.3262C>A
ENST00000684399.1:c.411C>A
ENST00000684579.1:n.4442C>A
ENST00000341012.12:c.*418C>A	ENSP00000343034.7:n.*418C>A
ENST00000372220.5:c.*418C>A	ENSP00000361294.5:n.*418C>A
ENST00000372228.9:c.*418C>A	ENSP00000361302.3:n.*418C>A
ENST00000402686.8:c.*418C>A MANE Select	ENSP00000385797.4:n.*418C>A
ENST00000676640.1:c.*418C>A	ENSP00000503281.1:n.*418C>A
ENST00000676803.1:c.*418C>A	ENSP00000503093.1:n.*418C>A
ENST00000676835.1:c.*1811C>A	ENSP00000502911.1:n.*1811C>A
ENST00000677295.1:c.*1818C>A	ENSP00000504346.1:n.*1818C>A
ENST00000677444.1:c.2541C>A
ENST00000677626.1:c.*418C>A	ENSP00000503552.1:n.*418C>A
ENST00000677853.1:c.*1604C>A	ENSP00000503488.1:n.*1604C>A
ENST00000678546.1:c.*2541C>A	ENSP00000503062.1:n.*2541C>A
ENST00000678548.1:c.*2735C>A	ENSP00000503934.1:n.*2735C>A
ENST00000678626.1:n.2432C>A
ENST00000678739.1:c.*2762C>A	ENSP00000503806.1:n.*2762C>A
ENST00000678833.1:c.*2348C>A	ENSP00000503893.1:n.*2348C>A
ENST00000679023.1:c.*242C>A	ENSP00000503718.1:n.*242C>A
ENST00000679076.1:c.2215C>A
ENST00000679111.1:c.*1352C>A	ENSP00000504257.1:n.*1352C>A
ENST00000341012.11:c.*418C>A	ENSP00000343034.7:n.*418C>A
ENST00000372220.4:c.1459C>A	ENSP00000361294.4:n.1459C>A
ENST00000372228.7:c.*418C>A	ENSP00000361302.3:n.*418C>A
ENST00000402686.7:c.*418C>A	ENSP00000385797.3:n.*418C>A
ENST00000404875.6:c.*418C>A	ENSP00000384531.2:n.*418C>A
ENST00000423007.5:c.*418C>A	ENSP00000404119.1:n.*418C>A
ENST00000485278.5:n.3146C>A
NM_001077365.1:c.*418C>A	NP_001070833.1:n.*418C>A
NM_001077366.1:c.*418C>A	NP_001070834.1:n.*418C>A
NM_001136113.1:c.*418C>A	NP_001129585.1:n.*418C>A
NM_001136114.1:c.*418C>A	NP_001129586.1:n.*418C>A
NM_007171.3:c.*418C>A	NP_009102.3:n.*418C>A
XM_005272156.1:c.*418C>A	XP_005272213.1:n.*418C>A
XM_005272158.1:c.*418C>A	XP_005272215.1:n.*418C>A
XM_005272159.1:c.*418C>A	XP_005272216.1:n.*418C>A
XM_005272162.1:c.*418C>A	XP_005272219.1:n.*418C>A
XM_006716932.1:c.*418C>A	XP_006716995.1:n.*418C>A
XM_011518140.1:c.*418C>A	XP_011516442.1:n.*418C>A
XM_011518141.1:c.*418C>A	XP_011516443.1:n.*418C>A
XM_011518142.1:c.*418C>A	XP_011516444.1:n.*418C>A
XM_011518143.1:c.*418C>A	XP_011516445.1:n.*418C>A
XM_011518145.1:c.*418C>A	XP_011516447.1:n.*418C>A
XM_011518147.1:c.*418C>A	XP_011516449.1:n.*418C>A
XR_929703.1:n.2662C>A
NM_001353193.1:c.*418C>A	NP_001340122.1:n.*418C>A
NM_001353194.1:c.*418C>A	NP_001340123.1:n.*418C>A
NM_001353195.1:c.*418C>A	NP_001340124.1:n.*418C>A
NM_001353196.1:c.*418C>A	NP_001340125.1:n.*418C>A
NM_001353197.1:c.*418C>A	NP_001340126.1:n.*418C>A
NM_001353198.1:c.*418C>A	NP_001340127.1:n.*418C>A
NM_001353199.1:c.*418C>A	NP_001340128.1:n.*418C>A
NM_001353200.1:c.*418C>A	NP_001340129.1:n.*418C>A
NR_148391.1:n.2470C>A
NR_148392.1:n.2688C>A
NR_148393.1:n.2785C>A
NR_148394.1:n.2539C>A
NR_148395.1:n.2937C>A
NR_148396.1:n.2571C>A
NR_148397.1:n.2696C>A
NR_148398.1:n.2651C>A
NR_148399.1:n.3001C>A
NR_148400.1:n.2776C>A
XM_005272162.3:c.*418C>A	XP_005272219.1:n.*418C>A
XM_006716932.2:c.*418C>A	XP_006716995.1:n.*418C>A
XM_011518140.2:c.*418C>A	XP_011516442.1:n.*418C>A
XM_011518141.2:c.*418C>A	XP_011516443.1:n.*418C>A
XM_011518142.2:c.*418C>A	XP_011516444.1:n.*418C>A
XM_011518143.2:c.*418C>A	XP_011516445.1:n.*418C>A
XM_011518145.2:c.*418C>A	XP_011516447.1:n.*418C>A
XM_017014205.2:c.*418C>A	XP_016869694.1:n.*418C>A
XM_024447380.1:c.*418C>A	XP_024303148.1:n.*418C>A
XM_024447381.1:c.*418C>A	XP_024303149.1:n.*418C>A
XM_024447382.1:c.*418C>A	XP_024303150.1:n.*418C>A
XR_001746160.2:n.2590C>A
XR_001746162.2:n.2971C>A
XR_001746164.1:n.2688C>A
XR_001746166.2:n.2807C>A
NM_001077365.2:c.*418C>A MANE Select	NP_001070833.1:n.*418C>A
NM_001077366.2:c.*418C>A	NP_001070834.1:n.*418C>A
NM_001136113.2:c.*418C>A	NP_001129585.1:n.*418C>A
NM_001136114.2:c.*418C>A	NP_001129586.1:n.*418C>A
NM_001353193.2:c.*418C>A	NP_001340122.2:n.*418C>A
NM_001353194.2:c.*418C>A	NP_001340123.1:n.*418C>A
NM_001353195.2:c.*418C>A	NP_001340124.1:n.*418C>A
NM_001353196.2:c.*418C>A	NP_001340125.1:n.*418C>A
NM_001353197.2:c.*418C>A	NP_001340126.2:n.*418C>A
NM_001353198.2:c.*418C>A	NP_001340127.2:n.*418C>A
NM_001353199.2:c.*418C>A	NP_001340128.2:n.*418C>A
NM_001353200.2:c.*418C>A	NP_001340129.1:n.*418C>A
NM_001374689.1:c.*418C>A	NP_001361618.1:n.*418C>A
NM_001374690.1:c.*418C>A	NP_001361619.1:n.*418C>A
NM_001374691.1:c.*418C>A	NP_001361620.1:n.*418C>A
NM_001374692.1:c.*418C>A	NP_001361621.1:n.*418C>A
NM_001374693.1:c.*418C>A	NP_001361622.1:n.*418C>A
NM_001374695.1:c.*418C>A	NP_001361624.1:n.*418C>A
NM_007171.4:c.*418C>A	NP_009102.4:n.*418C>A
NR_148391.2:n.2454C>A
NR_148392.2:n.2672C>A
NR_148393.2:n.2769C>A
NR_148394.2:n.2523C>A
NR_148395.2:n.2921C>A
NR_148396.2:n.2555C>A
NR_148397.2:n.2680C>A
NR_148398.2:n.2635C>A
NR_148399.2:n.2985C>A
NR_148400.2:n.2760C>A