Canonical Allele Identifier: CA2692223213

Gene: POMT1

Linked Data

• gnomAD v4: 9-131523440-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131523440C>A , CM000671.2:g.131523440C>A	GRCh38
NC_000009.11:g.134398827C>A , CM000671.1:g.134398827C>A	GRCh37
NC_000009.10:g.133388648C>A	NCBI36
NG_008896.1:g.25539C>A
NG_008896.2:g.25539C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.*334C>A	ENSP00000343034.7:n.*334C>A
ENST00000404875.7:n.3052C>A
ENST00000677295.2:c.*2856C>A	ENSP00000504346.2:n.*2856C>A
ENST00000678264.2:c.*2695C>A	ENSP00000503157.2:n.*2695C>A
ENST00000682070.1:n.2822C>A
ENST00000682639.1:c.240-23C>A
ENST00000682813.1:n.2909C>A
ENST00000683231.1:c.362C>A
ENST00000683392.1:n.5104C>A
ENST00000683900.1:n.4412C>A
ENST00000684062.1:n.3178C>A
ENST00000684399.1:c.327C>A
ENST00000684579.1:n.4358C>A
ENST00000341012.12:c.*334C>A	ENSP00000343034.7:n.*334C>A
ENST00000372220.5:c.*334C>A	ENSP00000361294.5:n.*334C>A
ENST00000372228.9:c.*334C>A	ENSP00000361302.3:n.*334C>A
ENST00000402686.8:c.*334C>A MANE Select	ENSP00000385797.4:n.*334C>A
ENST00000676640.1:c.*334C>A	ENSP00000503281.1:n.*334C>A
ENST00000676803.1:c.*334C>A	ENSP00000503093.1:n.*334C>A
ENST00000676835.1:c.*1727C>A	ENSP00000502911.1:n.*1727C>A
ENST00000677099.1:c.*2222C>A	ENSP00000504553.1:n.*2222C>A
ENST00000677216.1:c.*334C>A	ENSP00000503772.1:n.*334C>A
ENST00000677295.1:c.*1734C>A	ENSP00000504346.1:n.*1734C>A
ENST00000677444.1:c.2457C>A
ENST00000677626.1:c.*334C>A	ENSP00000503552.1:n.*334C>A
ENST00000677853.1:c.*1520C>A	ENSP00000503488.1:n.*1520C>A
ENST00000678366.1:c.*2761C>A	ENSP00000504353.1:n.*2761C>A
ENST00000678546.1:c.*2457C>A	ENSP00000503062.1:n.*2457C>A
ENST00000678548.1:c.*2651C>A	ENSP00000503934.1:n.*2651C>A
ENST00000678626.1:n.2348C>A
ENST00000678739.1:c.*2678C>A	ENSP00000503806.1:n.*2678C>A
ENST00000678833.1:c.*2264C>A	ENSP00000503893.1:n.*2264C>A
ENST00000679023.1:c.*158C>A	ENSP00000503718.1:n.*158C>A
ENST00000679076.1:c.2131C>A
ENST00000679111.1:c.*1268C>A	ENSP00000504257.1:n.*1268C>A
ENST00000341012.11:c.*334C>A	ENSP00000343034.7:n.*334C>A
ENST00000372220.4:c.1375C>A	ENSP00000361294.4:n.1375C>A
ENST00000372228.7:c.*334C>A	ENSP00000361302.3:n.*334C>A
ENST00000402686.7:c.*334C>A	ENSP00000385797.3:n.*334C>A
ENST00000404875.6:c.*334C>A	ENSP00000384531.2:n.*334C>A
ENST00000423007.5:c.*334C>A	ENSP00000404119.1:n.*334C>A
ENST00000485278.5:n.3062C>A
NM_001077365.1:c.*334C>A	NP_001070833.1:n.*334C>A
NM_001077366.1:c.*334C>A	NP_001070834.1:n.*334C>A
NM_001136113.1:c.*334C>A	NP_001129585.1:n.*334C>A
NM_001136114.1:c.*334C>A	NP_001129586.1:n.*334C>A
NM_007171.3:c.*334C>A	NP_009102.3:n.*334C>A
XM_005272156.1:c.*334C>A	XP_005272213.1:n.*334C>A
XM_005272158.1:c.*334C>A	XP_005272215.1:n.*334C>A
XM_005272159.1:c.*334C>A	XP_005272216.1:n.*334C>A
XM_005272162.1:c.*334C>A	XP_005272219.1:n.*334C>A
XM_006716932.1:c.*334C>A	XP_006716995.1:n.*334C>A
XM_011518140.1:c.*334C>A	XP_011516442.1:n.*334C>A
XM_011518141.1:c.*334C>A	XP_011516443.1:n.*334C>A
XM_011518142.1:c.*334C>A	XP_011516444.1:n.*334C>A
XM_011518143.1:c.*334C>A	XP_011516445.1:n.*334C>A
XM_011518145.1:c.*334C>A	XP_011516447.1:n.*334C>A
XM_011518147.1:c.*334C>A	XP_011516449.1:n.*334C>A
XR_929703.1:n.2578C>A
NM_001353193.1:c.*334C>A	NP_001340122.1:n.*334C>A
NM_001353194.1:c.*334C>A	NP_001340123.1:n.*334C>A
NM_001353195.1:c.*334C>A	NP_001340124.1:n.*334C>A
NM_001353196.1:c.*334C>A	NP_001340125.1:n.*334C>A
NM_001353197.1:c.*334C>A	NP_001340126.1:n.*334C>A
NM_001353198.1:c.*334C>A	NP_001340127.1:n.*334C>A
NM_001353199.1:c.*334C>A	NP_001340128.1:n.*334C>A
NM_001353200.1:c.*334C>A	NP_001340129.1:n.*334C>A
NR_148391.1:n.2386C>A
NR_148392.1:n.2604C>A
NR_148393.1:n.2701C>A
NR_148394.1:n.2455C>A
NR_148395.1:n.2853C>A
NR_148396.1:n.2487C>A
NR_148397.1:n.2612C>A
NR_148398.1:n.2567C>A
NR_148399.1:n.2917C>A
NR_148400.1:n.2692C>A
XM_005272162.3:c.*334C>A	XP_005272219.1:n.*334C>A
XM_006716932.2:c.*334C>A	XP_006716995.1:n.*334C>A
XM_011518140.2:c.*334C>A	XP_011516442.1:n.*334C>A
XM_011518141.2:c.*334C>A	XP_011516443.1:n.*334C>A
XM_011518142.2:c.*334C>A	XP_011516444.1:n.*334C>A
XM_011518143.2:c.*334C>A	XP_011516445.1:n.*334C>A
XM_011518145.2:c.*334C>A	XP_011516447.1:n.*334C>A
XM_017014205.2:c.*334C>A	XP_016869694.1:n.*334C>A
XM_024447380.1:c.*334C>A	XP_024303148.1:n.*334C>A
XM_024447381.1:c.*334C>A	XP_024303149.1:n.*334C>A
XM_024447382.1:c.*334C>A	XP_024303150.1:n.*334C>A
XR_001746160.2:n.2506C>A
XR_001746162.2:n.2887C>A
XR_001746164.1:n.2604C>A
XR_001746166.2:n.2723C>A
NM_001077365.2:c.*334C>A MANE Select	NP_001070833.1:n.*334C>A
NM_001077366.2:c.*334C>A	NP_001070834.1:n.*334C>A
NM_001136113.2:c.*334C>A	NP_001129585.1:n.*334C>A
NM_001136114.2:c.*334C>A	NP_001129586.1:n.*334C>A
NM_001353193.2:c.*334C>A	NP_001340122.2:n.*334C>A
NM_001353194.2:c.*334C>A	NP_001340123.1:n.*334C>A
NM_001353195.2:c.*334C>A	NP_001340124.1:n.*334C>A
NM_001353196.2:c.*334C>A	NP_001340125.1:n.*334C>A
NM_001353197.2:c.*334C>A	NP_001340126.2:n.*334C>A
NM_001353198.2:c.*334C>A	NP_001340127.2:n.*334C>A
NM_001353199.2:c.*334C>A	NP_001340128.2:n.*334C>A
NM_001353200.2:c.*334C>A	NP_001340129.1:n.*334C>A
NM_001374689.1:c.*334C>A	NP_001361618.1:n.*334C>A
NM_001374690.1:c.*334C>A	NP_001361619.1:n.*334C>A
NM_001374691.1:c.*334C>A	NP_001361620.1:n.*334C>A
NM_001374692.1:c.*334C>A	NP_001361621.1:n.*334C>A
NM_001374693.1:c.*334C>A	NP_001361622.1:n.*334C>A
NM_001374695.1:c.*334C>A	NP_001361624.1:n.*334C>A
NM_007171.4:c.*334C>A	NP_009102.4:n.*334C>A
NR_148391.2:n.2370C>A
NR_148392.2:n.2588C>A
NR_148393.2:n.2685C>A
NR_148394.2:n.2439C>A
NR_148395.2:n.2837C>A
NR_148396.2:n.2471C>A
NR_148397.2:n.2596C>A
NR_148398.2:n.2551C>A
NR_148399.2:n.2901C>A
NR_148400.2:n.2676C>A