Canonical Allele Identifier: CA590755614

Gene: POMT1

Linked Data

• dbSNP Id: rs1169515484
• gnomAD v2: 9-134398845-T-C
• gnomAD v3: 9-131523458-T-C
• gnomAD v4: 9-131523458-T-C
• MyVariant Identifiers: chr9:g.134398845T>C (hg19) ; chr9:g.131523458T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131523458T>C , CM000671.2:g.131523458T>C	GRCh38
NC_000009.11:g.134398845T>C , CM000671.1:g.134398845T>C	GRCh37
NC_000009.10:g.133388666T>C	NCBI36
NG_008896.1:g.25557T>C
NG_008896.2:g.25557T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.*352T>C	ENSP00000343034.7:n.*352T>C
ENST00000404875.7:n.3070T>C
ENST00000677295.2:c.*2874T>C	ENSP00000504346.2:n.*2874T>C
ENST00000678264.2:c.*2713T>C	ENSP00000503157.2:n.*2713T>C
ENST00000682070.1:n.2840T>C
ENST00000682639.1:c.240-5T>C
ENST00000682813.1:n.2927T>C
ENST00000683231.1:c.380T>C
ENST00000683392.1:n.5122T>C
ENST00000683900.1:n.4430T>C
ENST00000684062.1:n.3196T>C
ENST00000684399.1:c.345T>C
ENST00000684579.1:n.4376T>C
ENST00000341012.12:c.*352T>C	ENSP00000343034.7:n.*352T>C
ENST00000372220.5:c.*352T>C	ENSP00000361294.5:n.*352T>C
ENST00000372228.9:c.*352T>C	ENSP00000361302.3:n.*352T>C
ENST00000402686.8:c.*352T>C MANE Select	ENSP00000385797.4:n.*352T>C
ENST00000676640.1:c.*352T>C	ENSP00000503281.1:n.*352T>C
ENST00000676803.1:c.*352T>C	ENSP00000503093.1:n.*352T>C
ENST00000676835.1:c.*1745T>C	ENSP00000502911.1:n.*1745T>C
ENST00000677099.1:c.*2240T>C	ENSP00000504553.1:n.*2240T>C
ENST00000677295.1:c.*1752T>C	ENSP00000504346.1:n.*1752T>C
ENST00000677444.1:c.2475T>C
ENST00000677626.1:c.*352T>C	ENSP00000503552.1:n.*352T>C
ENST00000677853.1:c.*1538T>C	ENSP00000503488.1:n.*1538T>C
ENST00000678366.1:c.*2779T>C	ENSP00000504353.1:n.*2779T>C
ENST00000678546.1:c.*2475T>C	ENSP00000503062.1:n.*2475T>C
ENST00000678548.1:c.*2669T>C	ENSP00000503934.1:n.*2669T>C
ENST00000678626.1:n.2366T>C
ENST00000678739.1:c.*2696T>C	ENSP00000503806.1:n.*2696T>C
ENST00000678833.1:c.*2282T>C	ENSP00000503893.1:n.*2282T>C
ENST00000679023.1:c.*176T>C	ENSP00000503718.1:n.*176T>C
ENST00000679076.1:c.2149T>C
ENST00000679111.1:c.*1286T>C	ENSP00000504257.1:n.*1286T>C
ENST00000341012.11:c.*352T>C	ENSP00000343034.7:n.*352T>C
ENST00000372220.4:c.1393T>C	ENSP00000361294.4:n.1393T>C
ENST00000372228.7:c.*352T>C	ENSP00000361302.3:n.*352T>C
ENST00000402686.7:c.*352T>C	ENSP00000385797.3:n.*352T>C
ENST00000404875.6:c.*352T>C	ENSP00000384531.2:n.*352T>C
ENST00000423007.5:c.*352T>C	ENSP00000404119.1:n.*352T>C
ENST00000485278.5:n.3080T>C
NM_001077365.1:c.*352T>C	NP_001070833.1:n.*352T>C
NM_001077366.1:c.*352T>C	NP_001070834.1:n.*352T>C
NM_001136113.1:c.*352T>C	NP_001129585.1:n.*352T>C
NM_001136114.1:c.*352T>C	NP_001129586.1:n.*352T>C
NM_007171.3:c.*352T>C	NP_009102.3:n.*352T>C
XM_005272156.1:c.*352T>C	XP_005272213.1:n.*352T>C
XM_005272158.1:c.*352T>C	XP_005272215.1:n.*352T>C
XM_005272159.1:c.*352T>C	XP_005272216.1:n.*352T>C
XM_005272162.1:c.*352T>C	XP_005272219.1:n.*352T>C
XM_006716932.1:c.*352T>C	XP_006716995.1:n.*352T>C
XM_011518140.1:c.*352T>C	XP_011516442.1:n.*352T>C
XM_011518141.1:c.*352T>C	XP_011516443.1:n.*352T>C
XM_011518142.1:c.*352T>C	XP_011516444.1:n.*352T>C
XM_011518143.1:c.*352T>C	XP_011516445.1:n.*352T>C
XM_011518145.1:c.*352T>C	XP_011516447.1:n.*352T>C
XM_011518147.1:c.*352T>C	XP_011516449.1:n.*352T>C
XR_929703.1:n.2596T>C
NM_001353193.1:c.*352T>C	NP_001340122.1:n.*352T>C
NM_001353194.1:c.*352T>C	NP_001340123.1:n.*352T>C
NM_001353195.1:c.*352T>C	NP_001340124.1:n.*352T>C
NM_001353196.1:c.*352T>C	NP_001340125.1:n.*352T>C
NM_001353197.1:c.*352T>C	NP_001340126.1:n.*352T>C
NM_001353198.1:c.*352T>C	NP_001340127.1:n.*352T>C
NM_001353199.1:c.*352T>C	NP_001340128.1:n.*352T>C
NM_001353200.1:c.*352T>C	NP_001340129.1:n.*352T>C
NR_148391.1:n.2404T>C
NR_148392.1:n.2622T>C
NR_148393.1:n.2719T>C
NR_148394.1:n.2473T>C
NR_148395.1:n.2871T>C
NR_148396.1:n.2505T>C
NR_148397.1:n.2630T>C
NR_148398.1:n.2585T>C
NR_148399.1:n.2935T>C
NR_148400.1:n.2710T>C
XM_005272162.3:c.*352T>C	XP_005272219.1:n.*352T>C
XM_006716932.2:c.*352T>C	XP_006716995.1:n.*352T>C
XM_011518140.2:c.*352T>C	XP_011516442.1:n.*352T>C
XM_011518141.2:c.*352T>C	XP_011516443.1:n.*352T>C
XM_011518142.2:c.*352T>C	XP_011516444.1:n.*352T>C
XM_011518143.2:c.*352T>C	XP_011516445.1:n.*352T>C
XM_011518145.2:c.*352T>C	XP_011516447.1:n.*352T>C
XM_017014205.2:c.*352T>C	XP_016869694.1:n.*352T>C
XM_024447380.1:c.*352T>C	XP_024303148.1:n.*352T>C
XM_024447381.1:c.*352T>C	XP_024303149.1:n.*352T>C
XM_024447382.1:c.*352T>C	XP_024303150.1:n.*352T>C
XR_001746160.2:n.2524T>C
XR_001746162.2:n.2905T>C
XR_001746164.1:n.2622T>C
XR_001746166.2:n.2741T>C
NM_001077365.2:c.*352T>C MANE Select	NP_001070833.1:n.*352T>C
NM_001077366.2:c.*352T>C	NP_001070834.1:n.*352T>C
NM_001136113.2:c.*352T>C	NP_001129585.1:n.*352T>C
NM_001136114.2:c.*352T>C	NP_001129586.1:n.*352T>C
NM_001353193.2:c.*352T>C	NP_001340122.2:n.*352T>C
NM_001353194.2:c.*352T>C	NP_001340123.1:n.*352T>C
NM_001353195.2:c.*352T>C	NP_001340124.1:n.*352T>C
NM_001353196.2:c.*352T>C	NP_001340125.1:n.*352T>C
NM_001353197.2:c.*352T>C	NP_001340126.2:n.*352T>C
NM_001353198.2:c.*352T>C	NP_001340127.2:n.*352T>C
NM_001353199.2:c.*352T>C	NP_001340128.2:n.*352T>C
NM_001353200.2:c.*352T>C	NP_001340129.1:n.*352T>C
NM_001374689.1:c.*352T>C	NP_001361618.1:n.*352T>C
NM_001374690.1:c.*352T>C	NP_001361619.1:n.*352T>C
NM_001374691.1:c.*352T>C	NP_001361620.1:n.*352T>C
NM_001374692.1:c.*352T>C	NP_001361621.1:n.*352T>C
NM_001374693.1:c.*352T>C	NP_001361622.1:n.*352T>C
NM_001374695.1:c.*352T>C	NP_001361624.1:n.*352T>C
NM_007171.4:c.*352T>C	NP_009102.4:n.*352T>C
NR_148391.2:n.2388T>C
NR_148392.2:n.2606T>C
NR_148393.2:n.2703T>C
NR_148394.2:n.2457T>C
NR_148395.2:n.2855T>C
NR_148396.2:n.2489T>C
NR_148397.2:n.2614T>C
NR_148398.2:n.2569T>C
NR_148399.2:n.2919T>C
NR_148400.2:n.2694T>C