Canonical Allele Identifier: CA2692223492

Gene: POMT1

Linked Data

• gnomAD v4: 9-131523479-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131523479G>C , CM000671.2:g.131523479G>C	GRCh38
NC_000009.11:g.134398866G>C , CM000671.1:g.134398866G>C	GRCh37
NC_000009.10:g.133388687G>C	NCBI36
NG_008896.1:g.25578G>C
NG_008896.2:g.25578G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.*373G>C	ENSP00000343034.7:n.*373G>C
ENST00000404875.7:n.3091G>C
ENST00000677295.2:c.*2895G>C	ENSP00000504346.2:n.*2895G>C
ENST00000678264.2:c.*2734G>C	ENSP00000503157.2:n.*2734G>C
ENST00000682070.1:n.2861G>C
ENST00000682639.1:c.256G>C
ENST00000682813.1:n.2948G>C
ENST00000683231.1:c.401G>C
ENST00000683392.1:n.5143G>C
ENST00000683900.1:n.4451G>C
ENST00000684062.1:n.3217G>C
ENST00000684399.1:c.366G>C
ENST00000684579.1:n.4397G>C
ENST00000341012.12:c.*373G>C	ENSP00000343034.7:n.*373G>C
ENST00000372220.5:c.*373G>C	ENSP00000361294.5:n.*373G>C
ENST00000372228.9:c.*373G>C	ENSP00000361302.3:n.*373G>C
ENST00000402686.8:c.*373G>C MANE Select	ENSP00000385797.4:n.*373G>C
ENST00000676640.1:c.*373G>C	ENSP00000503281.1:n.*373G>C
ENST00000676803.1:c.*373G>C	ENSP00000503093.1:n.*373G>C
ENST00000676835.1:c.*1766G>C	ENSP00000502911.1:n.*1766G>C
ENST00000677099.1:c.*2261G>C	ENSP00000504553.1:n.*2261G>C
ENST00000677295.1:c.*1773G>C	ENSP00000504346.1:n.*1773G>C
ENST00000677444.1:c.2496G>C
ENST00000677626.1:c.*373G>C	ENSP00000503552.1:n.*373G>C
ENST00000677853.1:c.*1559G>C	ENSP00000503488.1:n.*1559G>C
ENST00000678366.1:c.*2800G>C	ENSP00000504353.1:n.*2800G>C
ENST00000678546.1:c.*2496G>C	ENSP00000503062.1:n.*2496G>C
ENST00000678548.1:c.*2690G>C	ENSP00000503934.1:n.*2690G>C
ENST00000678626.1:n.2387G>C
ENST00000678739.1:c.*2717G>C	ENSP00000503806.1:n.*2717G>C
ENST00000678833.1:c.*2303G>C	ENSP00000503893.1:n.*2303G>C
ENST00000679023.1:c.*197G>C	ENSP00000503718.1:n.*197G>C
ENST00000679076.1:c.2170G>C
ENST00000679111.1:c.*1307G>C	ENSP00000504257.1:n.*1307G>C
ENST00000341012.11:c.*373G>C	ENSP00000343034.7:n.*373G>C
ENST00000372220.4:c.1414G>C	ENSP00000361294.4:n.1414G>C
ENST00000372228.7:c.*373G>C	ENSP00000361302.3:n.*373G>C
ENST00000402686.7:c.*373G>C	ENSP00000385797.3:n.*373G>C
ENST00000404875.6:c.*373G>C	ENSP00000384531.2:n.*373G>C
ENST00000423007.5:c.*373G>C	ENSP00000404119.1:n.*373G>C
ENST00000485278.5:n.3101G>C
NM_001077365.1:c.*373G>C	NP_001070833.1:n.*373G>C
NM_001077366.1:c.*373G>C	NP_001070834.1:n.*373G>C
NM_001136113.1:c.*373G>C	NP_001129585.1:n.*373G>C
NM_001136114.1:c.*373G>C	NP_001129586.1:n.*373G>C
NM_007171.3:c.*373G>C	NP_009102.3:n.*373G>C
XM_005272156.1:c.*373G>C	XP_005272213.1:n.*373G>C
XM_005272158.1:c.*373G>C	XP_005272215.1:n.*373G>C
XM_005272159.1:c.*373G>C	XP_005272216.1:n.*373G>C
XM_005272162.1:c.*373G>C	XP_005272219.1:n.*373G>C
XM_006716932.1:c.*373G>C	XP_006716995.1:n.*373G>C
XM_011518140.1:c.*373G>C	XP_011516442.1:n.*373G>C
XM_011518141.1:c.*373G>C	XP_011516443.1:n.*373G>C
XM_011518142.1:c.*373G>C	XP_011516444.1:n.*373G>C
XM_011518143.1:c.*373G>C	XP_011516445.1:n.*373G>C
XM_011518145.1:c.*373G>C	XP_011516447.1:n.*373G>C
XM_011518147.1:c.*373G>C	XP_011516449.1:n.*373G>C
XR_929703.1:n.2617G>C
NM_001353193.1:c.*373G>C	NP_001340122.1:n.*373G>C
NM_001353194.1:c.*373G>C	NP_001340123.1:n.*373G>C
NM_001353195.1:c.*373G>C	NP_001340124.1:n.*373G>C
NM_001353196.1:c.*373G>C	NP_001340125.1:n.*373G>C
NM_001353197.1:c.*373G>C	NP_001340126.1:n.*373G>C
NM_001353198.1:c.*373G>C	NP_001340127.1:n.*373G>C
NM_001353199.1:c.*373G>C	NP_001340128.1:n.*373G>C
NM_001353200.1:c.*373G>C	NP_001340129.1:n.*373G>C
NR_148391.1:n.2425G>C
NR_148392.1:n.2643G>C
NR_148393.1:n.2740G>C
NR_148394.1:n.2494G>C
NR_148395.1:n.2892G>C
NR_148396.1:n.2526G>C
NR_148397.1:n.2651G>C
NR_148398.1:n.2606G>C
NR_148399.1:n.2956G>C
NR_148400.1:n.2731G>C
XM_005272162.3:c.*373G>C	XP_005272219.1:n.*373G>C
XM_006716932.2:c.*373G>C	XP_006716995.1:n.*373G>C
XM_011518140.2:c.*373G>C	XP_011516442.1:n.*373G>C
XM_011518141.2:c.*373G>C	XP_011516443.1:n.*373G>C
XM_011518142.2:c.*373G>C	XP_011516444.1:n.*373G>C
XM_011518143.2:c.*373G>C	XP_011516445.1:n.*373G>C
XM_011518145.2:c.*373G>C	XP_011516447.1:n.*373G>C
XM_017014205.2:c.*373G>C	XP_016869694.1:n.*373G>C
XM_024447380.1:c.*373G>C	XP_024303148.1:n.*373G>C
XM_024447381.1:c.*373G>C	XP_024303149.1:n.*373G>C
XM_024447382.1:c.*373G>C	XP_024303150.1:n.*373G>C
XR_001746160.2:n.2545G>C
XR_001746162.2:n.2926G>C
XR_001746164.1:n.2643G>C
XR_001746166.2:n.2762G>C
NM_001077365.2:c.*373G>C MANE Select	NP_001070833.1:n.*373G>C
NM_001077366.2:c.*373G>C	NP_001070834.1:n.*373G>C
NM_001136113.2:c.*373G>C	NP_001129585.1:n.*373G>C
NM_001136114.2:c.*373G>C	NP_001129586.1:n.*373G>C
NM_001353193.2:c.*373G>C	NP_001340122.2:n.*373G>C
NM_001353194.2:c.*373G>C	NP_001340123.1:n.*373G>C
NM_001353195.2:c.*373G>C	NP_001340124.1:n.*373G>C
NM_001353196.2:c.*373G>C	NP_001340125.1:n.*373G>C
NM_001353197.2:c.*373G>C	NP_001340126.2:n.*373G>C
NM_001353198.2:c.*373G>C	NP_001340127.2:n.*373G>C
NM_001353199.2:c.*373G>C	NP_001340128.2:n.*373G>C
NM_001353200.2:c.*373G>C	NP_001340129.1:n.*373G>C
NM_001374689.1:c.*373G>C	NP_001361618.1:n.*373G>C
NM_001374690.1:c.*373G>C	NP_001361619.1:n.*373G>C
NM_001374691.1:c.*373G>C	NP_001361620.1:n.*373G>C
NM_001374692.1:c.*373G>C	NP_001361621.1:n.*373G>C
NM_001374693.1:c.*373G>C	NP_001361622.1:n.*373G>C
NM_001374695.1:c.*373G>C	NP_001361624.1:n.*373G>C
NM_007171.4:c.*373G>C	NP_009102.4:n.*373G>C
NR_148391.2:n.2409G>C
NR_148392.2:n.2627G>C
NR_148393.2:n.2724G>C
NR_148394.2:n.2478G>C
NR_148395.2:n.2876G>C
NR_148396.2:n.2510G>C
NR_148397.2:n.2635G>C
NR_148398.2:n.2590G>C
NR_148399.2:n.2940G>C
NR_148400.2:n.2715G>C