Canonical Allele Identifier: CA375315449

Gene: POMT1

Linked Data

• gnomAD v4: 9-131523083-G-A
• MyVariant Identifiers: chr9:g.134398470G>A (hg19) ; chr9:g.131523083G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131523083G>A , CM000671.2:g.131523083G>A	GRCh38
NC_000009.11:g.134398470G>A , CM000671.1:g.134398470G>A	GRCh37
NC_000009.10:g.133388291G>A	NCBI36
NG_008896.1:g.25182G>A
NG_008896.2:g.25182G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1993G>A	ENSP00000343034.7:p.Asp665Asn
ENST00000404875.7:n.2695G>A
ENST00000423007.6:c.2212G>A	ENSP00000404119.2:p.Asp738Asn
ENST00000677295.2:c.*2499G>A	ENSP00000504346.2:n.*2499G>A
ENST00000678264.2:c.*2338G>A	ENSP00000503157.2:n.*2338G>A
ENST00000682070.1:n.2465G>A
ENST00000682639.1:c.152G>A
ENST00000682813.1:n.2552G>A
ENST00000683231.1:c.152G>A
ENST00000683392.1:n.4747G>A
ENST00000683712.1:n.2560G>A
ENST00000683900.1:n.4055G>A
ENST00000684062.1:n.2821G>A
ENST00000684399.1:c.152G>A
ENST00000684579.1:n.4001G>A
ENST00000341012.12:c.1993G>A	ENSP00000343034.7:p.Asp665Asn
ENST00000372220.5:c.1024G>A	ENSP00000361294.5:p.Asp342Asn
ENST00000372228.9:c.2221G>A	ENSP00000361302.3:p.Asp741Asn
ENST00000402686.8:c.2155G>A MANE Select	ENSP00000385797.4:p.Asp719Asn
ENST00000676640.1:c.2155G>A	ENSP00000503281.1:p.Asp719Asn
ENST00000676803.1:c.1216G>A	ENSP00000503093.1:p.Asp406Asn
ENST00000676835.1:c.*1370G>A	ENSP00000502911.1:n.*1370G>A
ENST00000677029.1:c.1699G>A	ENSP00000502936.1:p.Asp567Asn
ENST00000677099.1:c.*1865G>A	ENSP00000504553.1:n.*1865G>A
ENST00000677216.1:c.1804G>A	ENSP00000503772.1:p.Asp602Asn
ENST00000677295.1:c.*1377G>A	ENSP00000504346.1:n.*1377G>A
ENST00000677444.1:c.2100G>A
ENST00000677586.1:n.1522G>A
ENST00000677626.1:c.1804G>A	ENSP00000503552.1:p.Asp602Asn
ENST00000677853.1:c.*1163G>A	ENSP00000503488.1:n.*1163G>A
ENST00000678264.1:c.*1532G>A	ENSP00000503157.1:n.*1532G>A
ENST00000678303.1:c.2065G>A	ENSP00000503696.1:p.Asp689Asn
ENST00000678366.1:c.*2404G>A	ENSP00000504353.1:n.*2404G>A
ENST00000678546.1:c.*2100G>A	ENSP00000503062.1:n.*2100G>A
ENST00000678548.1:c.*2294G>A	ENSP00000503934.1:n.*2294G>A
ENST00000678626.1:n.1991G>A
ENST00000678739.1:c.*2321G>A	ENSP00000503806.1:n.*2321G>A
ENST00000678833.1:c.*1907G>A	ENSP00000503893.1:n.*1907G>A
ENST00000679023.1:c.1993G>A	ENSP00000503718.1:p.Asp665Asn
ENST00000679076.1:c.1774G>A
ENST00000679111.1:c.*911G>A	ENSP00000504257.1:n.*911G>A
ENST00000679189.1:c.1804G>A	ENSP00000503356.1:p.Asp602Asn
ENST00000341012.11:c.1993G>A	ENSP00000343034.7:p.Asp665Asn
ENST00000372220.4:c.1018G>A	ENSP00000361294.4:p.Asp340Asn
ENST00000372228.7:c.2221G>A	ENSP00000361302.3:p.Asp741Asn
ENST00000402686.7:c.2155G>A	ENSP00000385797.3:p.Asp719Asn
ENST00000404875.6:c.1804G>A	ENSP00000384531.2:p.Asp602Asn
ENST00000423007.5:c.2155G>A	ENSP00000404119.1:p.Asp719Asn
ENST00000485278.5:n.2705G>A
NM_001077365.1:c.2155G>A	NP_001070833.1:p.Asp719Asn
NM_001077366.1:c.1993G>A	NP_001070834.1:p.Asp665Asn
NM_001136113.1:c.2155G>A	NP_001129585.1:p.Asp719Asn
NM_001136114.1:c.1804G>A	NP_001129586.1:p.Asp602Asn
NM_007171.3:c.2221G>A	NP_009102.3:p.Asp741Asn
XM_005272156.1:c.2221G>A	XP_005272213.1:p.Asp741Asn
XM_005272158.1:c.2059G>A	XP_005272215.1:p.Asp687Asn
XM_005272159.1:c.1870G>A	XP_005272216.1:p.Asp624Asn
XM_005272162.1:c.1024G>A	XP_005272219.1:p.Asp342Asn
XM_006716932.1:c.1870G>A	XP_006716995.1:p.Asp624Asn
XM_011518140.1:c.2074G>A	XP_011516442.1:p.Asp692Asn
XM_011518141.1:c.2008G>A	XP_011516443.1:p.Asp670Asn
XM_011518142.1:c.1912G>A	XP_011516444.1:p.Asp638Asn
XM_011518143.1:c.1906G>A	XP_011516445.1:p.Asp636Asn
XM_011518145.1:c.1765G>A	XP_011516447.1:p.Asp589Asn
XM_011518147.1:c.1093G>A	XP_011516449.1:p.Asp365Asn
XR_929703.1:n.2397G>A
NM_001353193.1:c.2221G>A	NP_001340122.1:p.Asp741Asn
NM_001353194.1:c.1993G>A	NP_001340123.1:p.Asp665Asn
NM_001353195.1:c.1804G>A	NP_001340124.1:p.Asp602Asn
NM_001353196.1:c.2065G>A	NP_001340125.1:p.Asp689Asn
NM_001353197.1:c.2059G>A	NP_001340126.1:p.Asp687Asn
NM_001353198.1:c.2059G>A	NP_001340127.1:p.Asp687Asn
NM_001353199.1:c.1870G>A	NP_001340128.1:p.Asp624Asn
NM_001353200.1:c.1699G>A	NP_001340129.1:p.Asp567Asn
NR_148391.1:n.2205G>A
NR_148392.1:n.2423G>A
NR_148393.1:n.2344G>A
NR_148394.1:n.2098G>A
NR_148395.1:n.2496G>A
NR_148396.1:n.2130G>A
NR_148397.1:n.2255G>A
NR_148398.1:n.2210G>A
NR_148399.1:n.2736G>A
NR_148400.1:n.2335G>A
XM_005272162.3:c.1024G>A	XP_005272219.1:p.Asp342Asn
XM_006716932.2:c.1870G>A	XP_006716995.1:p.Asp624Asn
XM_011518140.2:c.2074G>A	XP_011516442.1:p.Asp692Asn
XM_011518141.2:c.2008G>A	XP_011516443.1:p.Asp670Asn
XM_011518142.2:c.1912G>A	XP_011516444.1:p.Asp638Asn
XM_011518143.2:c.1906G>A	XP_011516445.1:p.Asp636Asn
XM_011518145.2:c.1765G>A	XP_011516447.1:p.Asp589Asn
XM_017014205.2:c.1024G>A	XP_016869694.1:p.Asp342Asn
XM_024447380.1:c.1024G>A	XP_024303148.1:p.Asp342Asn
XM_024447381.1:c.1330G>A	XP_024303149.1:p.Asp444Asn
XM_024447382.1:c.1024G>A	XP_024303150.1:p.Asp342Asn
XR_001746160.2:n.2325G>A
XR_001746162.2:n.2530G>A
XR_001746164.1:n.2247G>A
XR_001746166.2:n.2542G>A
NM_001077365.2:c.2155G>A MANE Select	NP_001070833.1:p.Asp719Asn
NM_001077366.2:c.1993G>A	NP_001070834.1:p.Asp665Asn
NM_001136113.2:c.2155G>A	NP_001129585.1:p.Asp719Asn
NM_001136114.2:c.1804G>A	NP_001129586.1:p.Asp602Asn
NM_001353193.2:c.2221G>A	NP_001340122.2:p.Asp741Asn
NM_001353194.2:c.1993G>A	NP_001340123.1:p.Asp665Asn
NM_001353195.2:c.1804G>A	NP_001340124.1:p.Asp602Asn
NM_001353196.2:c.2065G>A	NP_001340125.1:p.Asp689Asn
NM_001353197.2:c.2059G>A	NP_001340126.2:p.Asp687Asn
NM_001353198.2:c.2059G>A	NP_001340127.2:p.Asp687Asn
NM_001353199.2:c.1870G>A	NP_001340128.2:p.Asp624Asn
NM_001353200.2:c.1699G>A	NP_001340129.1:p.Asp567Asn
NM_001374689.1:c.2143G>A	NP_001361618.1:p.Asp715Asn
NM_001374690.1:c.1936G>A	NP_001361619.1:p.Asp646Asn
NM_001374691.1:c.1804G>A	NP_001361620.1:p.Asp602Asn
NM_001374692.1:c.1804G>A	NP_001361621.1:p.Asp602Asn
NM_001374693.1:c.1804G>A	NP_001361622.1:p.Asp602Asn
NM_001374695.1:c.1765G>A	NP_001361624.1:p.Asp589Asn
NM_007171.4:c.2221G>A	NP_009102.4:p.Asp741Asn
NR_148391.2:n.2189G>A
NR_148392.2:n.2407G>A
NR_148393.2:n.2328G>A
NR_148394.2:n.2082G>A
NR_148395.2:n.2480G>A
NR_148396.2:n.2114G>A
NR_148397.2:n.2239G>A
NR_148398.2:n.2194G>A
NR_148399.2:n.2720G>A
NR_148400.2:n.2319G>A