Canonical Allele Identifier: CA2692223555

Gene: POMT1

Linked Data

• gnomAD v4: 9-131523494-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131523494C>A , CM000671.2:g.131523494C>A	GRCh38
NC_000009.11:g.134398881C>A , CM000671.1:g.134398881C>A	GRCh37
NC_000009.10:g.133388702C>A	NCBI36
NG_008896.1:g.25593C>A
NG_008896.2:g.25593C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.*388C>A	ENSP00000343034.7:n.*388C>A
ENST00000404875.7:n.3106C>A
ENST00000677295.2:c.*2910C>A	ENSP00000504346.2:n.*2910C>A
ENST00000678264.2:c.*2749C>A	ENSP00000503157.2:n.*2749C>A
ENST00000682070.1:n.2876C>A
ENST00000682639.1:c.271C>A
ENST00000682813.1:n.2963C>A
ENST00000683231.1:c.416C>A
ENST00000683392.1:n.5158C>A
ENST00000683900.1:n.4466C>A
ENST00000684062.1:n.3232C>A
ENST00000684399.1:c.381C>A
ENST00000684579.1:n.4412C>A
ENST00000341012.12:c.*388C>A	ENSP00000343034.7:n.*388C>A
ENST00000372220.5:c.*388C>A	ENSP00000361294.5:n.*388C>A
ENST00000372228.9:c.*388C>A	ENSP00000361302.3:n.*388C>A
ENST00000402686.8:c.*388C>A MANE Select	ENSP00000385797.4:n.*388C>A
ENST00000676640.1:c.*388C>A	ENSP00000503281.1:n.*388C>A
ENST00000676803.1:c.*388C>A	ENSP00000503093.1:n.*388C>A
ENST00000676835.1:c.*1781C>A	ENSP00000502911.1:n.*1781C>A
ENST00000677099.1:c.*2276C>A	ENSP00000504553.1:n.*2276C>A
ENST00000677295.1:c.*1788C>A	ENSP00000504346.1:n.*1788C>A
ENST00000677444.1:c.2511C>A
ENST00000677626.1:c.*388C>A	ENSP00000503552.1:n.*388C>A
ENST00000677853.1:c.*1574C>A	ENSP00000503488.1:n.*1574C>A
ENST00000678546.1:c.*2511C>A	ENSP00000503062.1:n.*2511C>A
ENST00000678548.1:c.*2705C>A	ENSP00000503934.1:n.*2705C>A
ENST00000678626.1:n.2402C>A
ENST00000678739.1:c.*2732C>A	ENSP00000503806.1:n.*2732C>A
ENST00000678833.1:c.*2318C>A	ENSP00000503893.1:n.*2318C>A
ENST00000679023.1:c.*212C>A	ENSP00000503718.1:n.*212C>A
ENST00000679076.1:c.2185C>A
ENST00000679111.1:c.*1322C>A	ENSP00000504257.1:n.*1322C>A
ENST00000341012.11:c.*388C>A	ENSP00000343034.7:n.*388C>A
ENST00000372220.4:c.1429C>A	ENSP00000361294.4:n.1429C>A
ENST00000372228.7:c.*388C>A	ENSP00000361302.3:n.*388C>A
ENST00000402686.7:c.*388C>A	ENSP00000385797.3:n.*388C>A
ENST00000404875.6:c.*388C>A	ENSP00000384531.2:n.*388C>A
ENST00000423007.5:c.*388C>A	ENSP00000404119.1:n.*388C>A
ENST00000485278.5:n.3116C>A
NM_001077365.1:c.*388C>A	NP_001070833.1:n.*388C>A
NM_001077366.1:c.*388C>A	NP_001070834.1:n.*388C>A
NM_001136113.1:c.*388C>A	NP_001129585.1:n.*388C>A
NM_001136114.1:c.*388C>A	NP_001129586.1:n.*388C>A
NM_007171.3:c.*388C>A	NP_009102.3:n.*388C>A
XM_005272156.1:c.*388C>A	XP_005272213.1:n.*388C>A
XM_005272158.1:c.*388C>A	XP_005272215.1:n.*388C>A
XM_005272159.1:c.*388C>A	XP_005272216.1:n.*388C>A
XM_005272162.1:c.*388C>A	XP_005272219.1:n.*388C>A
XM_006716932.1:c.*388C>A	XP_006716995.1:n.*388C>A
XM_011518140.1:c.*388C>A	XP_011516442.1:n.*388C>A
XM_011518141.1:c.*388C>A	XP_011516443.1:n.*388C>A
XM_011518142.1:c.*388C>A	XP_011516444.1:n.*388C>A
XM_011518143.1:c.*388C>A	XP_011516445.1:n.*388C>A
XM_011518145.1:c.*388C>A	XP_011516447.1:n.*388C>A
XM_011518147.1:c.*388C>A	XP_011516449.1:n.*388C>A
XR_929703.1:n.2632C>A
NM_001353193.1:c.*388C>A	NP_001340122.1:n.*388C>A
NM_001353194.1:c.*388C>A	NP_001340123.1:n.*388C>A
NM_001353195.1:c.*388C>A	NP_001340124.1:n.*388C>A
NM_001353196.1:c.*388C>A	NP_001340125.1:n.*388C>A
NM_001353197.1:c.*388C>A	NP_001340126.1:n.*388C>A
NM_001353198.1:c.*388C>A	NP_001340127.1:n.*388C>A
NM_001353199.1:c.*388C>A	NP_001340128.1:n.*388C>A
NM_001353200.1:c.*388C>A	NP_001340129.1:n.*388C>A
NR_148391.1:n.2440C>A
NR_148392.1:n.2658C>A
NR_148393.1:n.2755C>A
NR_148394.1:n.2509C>A
NR_148395.1:n.2907C>A
NR_148396.1:n.2541C>A
NR_148397.1:n.2666C>A
NR_148398.1:n.2621C>A
NR_148399.1:n.2971C>A
NR_148400.1:n.2746C>A
XM_005272162.3:c.*388C>A	XP_005272219.1:n.*388C>A
XM_006716932.2:c.*388C>A	XP_006716995.1:n.*388C>A
XM_011518140.2:c.*388C>A	XP_011516442.1:n.*388C>A
XM_011518141.2:c.*388C>A	XP_011516443.1:n.*388C>A
XM_011518142.2:c.*388C>A	XP_011516444.1:n.*388C>A
XM_011518143.2:c.*388C>A	XP_011516445.1:n.*388C>A
XM_011518145.2:c.*388C>A	XP_011516447.1:n.*388C>A
XM_017014205.2:c.*388C>A	XP_016869694.1:n.*388C>A
XM_024447380.1:c.*388C>A	XP_024303148.1:n.*388C>A
XM_024447381.1:c.*388C>A	XP_024303149.1:n.*388C>A
XM_024447382.1:c.*388C>A	XP_024303150.1:n.*388C>A
XR_001746160.2:n.2560C>A
XR_001746162.2:n.2941C>A
XR_001746164.1:n.2658C>A
XR_001746166.2:n.2777C>A
NM_001077365.2:c.*388C>A MANE Select	NP_001070833.1:n.*388C>A
NM_001077366.2:c.*388C>A	NP_001070834.1:n.*388C>A
NM_001136113.2:c.*388C>A	NP_001129585.1:n.*388C>A
NM_001136114.2:c.*388C>A	NP_001129586.1:n.*388C>A
NM_001353193.2:c.*388C>A	NP_001340122.2:n.*388C>A
NM_001353194.2:c.*388C>A	NP_001340123.1:n.*388C>A
NM_001353195.2:c.*388C>A	NP_001340124.1:n.*388C>A
NM_001353196.2:c.*388C>A	NP_001340125.1:n.*388C>A
NM_001353197.2:c.*388C>A	NP_001340126.2:n.*388C>A
NM_001353198.2:c.*388C>A	NP_001340127.2:n.*388C>A
NM_001353199.2:c.*388C>A	NP_001340128.2:n.*388C>A
NM_001353200.2:c.*388C>A	NP_001340129.1:n.*388C>A
NM_001374689.1:c.*388C>A	NP_001361618.1:n.*388C>A
NM_001374690.1:c.*388C>A	NP_001361619.1:n.*388C>A
NM_001374691.1:c.*388C>A	NP_001361620.1:n.*388C>A
NM_001374692.1:c.*388C>A	NP_001361621.1:n.*388C>A
NM_001374693.1:c.*388C>A	NP_001361622.1:n.*388C>A
NM_001374695.1:c.*388C>A	NP_001361624.1:n.*388C>A
NM_007171.4:c.*388C>A	NP_009102.4:n.*388C>A
NR_148391.2:n.2424C>A
NR_148392.2:n.2642C>A
NR_148393.2:n.2739C>A
NR_148394.2:n.2493C>A
NR_148395.2:n.2891C>A
NR_148396.2:n.2525C>A
NR_148397.2:n.2650C>A
NR_148398.2:n.2605C>A
NR_148399.2:n.2955C>A
NR_148400.2:n.2730C>A