Canonical Allele Identifier: CA375312039

Gene: POMT1

Linked Data

• gnomAD v4: 9-131518924-G-A
• MyVariant Identifiers: chr9:g.134394311G>A (hg19) ; chr9:g.131518924G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131518924G>A , CM000671.2:g.131518924G>A	GRCh38
NC_000009.11:g.134394311G>A , CM000671.1:g.134394311G>A	GRCh37
NC_000009.10:g.133384132G>A	NCBI36
NG_008896.1:g.21023G>A
NG_008896.2:g.21023G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1291G>A	ENSP00000343034.7:p.Val431Met
ENST00000404875.7:n.1993G>A
ENST00000423007.6:c.1510G>A	ENSP00000404119.2:p.Val504Met
ENST00000677295.2:c.*1797G>A	ENSP00000504346.2:n.*1797G>A
ENST00000678264.2:c.*1636G>A	ENSP00000503157.2:n.*1636G>A
ENST00000682070.1:n.1918G>A
ENST00000682539.1:c.391G>A
ENST00000682813.1:n.1857G>A
ENST00000683392.1:n.4200G>A
ENST00000683712.1:n.1858G>A
ENST00000683900.1:n.3353G>A
ENST00000684062.1:n.2119G>A
ENST00000684579.1:n.3299G>A
ENST00000684679.1:n.680G>A
ENST00000341012.12:c.1291G>A	ENSP00000343034.7:p.Val431Met
ENST00000372220.5:c.322G>A	ENSP00000361294.5:p.Val108Met
ENST00000372228.9:c.1519G>A	ENSP00000361302.3:p.Val507Met
ENST00000402686.8:c.1453G>A MANE Select	ENSP00000385797.4:p.Val485Met
ENST00000676640.1:c.1453G>A	ENSP00000503281.1:p.Val485Met
ENST00000676803.1:c.628G>A	ENSP00000503093.1:p.Val210Met
ENST00000676835.1:c.*668G>A	ENSP00000502911.1:n.*668G>A
ENST00000677029.1:c.997G>A	ENSP00000502936.1:p.Val333Met
ENST00000677099.1:c.*1163G>A	ENSP00000504553.1:n.*1163G>A
ENST00000677216.1:c.1102G>A	ENSP00000503772.1:p.Val368Met
ENST00000677221.1:n.478G>A
ENST00000677295.1:c.*830G>A	ENSP00000504346.1:n.*830G>A
ENST00000677444.1:c.1398G>A
ENST00000677586.1:n.934G>A
ENST00000677626.1:c.1102G>A	ENSP00000503552.1:p.Val368Met
ENST00000677677.1:n.1413G>A
ENST00000677853.1:c.*461G>A	ENSP00000503488.1:n.*461G>A
ENST00000678202.1:n.612G>A
ENST00000678264.1:c.*830G>A	ENSP00000503157.1:n.*830G>A
ENST00000678303.1:c.1363G>A	ENSP00000503696.1:p.Val455Met
ENST00000678366.1:c.*1702G>A	ENSP00000504353.1:n.*1702G>A
ENST00000678546.1:c.*1398G>A	ENSP00000503062.1:n.*1398G>A
ENST00000678548.1:c.*1525G>A	ENSP00000503934.1:n.*1525G>A
ENST00000678626.1:n.1289G>A
ENST00000678733.1:c.534G>A
ENST00000678739.1:c.*1779G>A	ENSP00000503806.1:n.*1779G>A
ENST00000678833.1:c.*900G>A	ENSP00000503893.1:n.*900G>A
ENST00000679023.1:c.1291G>A	ENSP00000503718.1:p.Val431Met
ENST00000679076.1:c.1072G>A
ENST00000679111.1:c.*209G>A	ENSP00000504257.1:n.*209G>A
ENST00000679189.1:c.1102G>A	ENSP00000503356.1:p.Val368Met
ENST00000341012.11:c.1291G>A	ENSP00000343034.7:p.Val431Met
ENST00000372220.4:c.316G>A	ENSP00000361294.4:p.Val106Met
ENST00000372228.7:c.1519G>A	ENSP00000361302.3:p.Val507Met
ENST00000402686.7:c.1453G>A	ENSP00000385797.3:p.Val485Met
ENST00000404875.6:c.1102G>A	ENSP00000384531.2:p.Val368Met
ENST00000423007.5:c.1453G>A	ENSP00000404119.1:p.Val485Met
ENST00000467848.1:n.157G>A
ENST00000485278.5:n.2008G>A
NM_001077365.1:c.1453G>A	NP_001070833.1:p.Val485Met
NM_001077366.1:c.1291G>A	NP_001070834.1:p.Val431Met
NM_001136113.1:c.1453G>A	NP_001129585.1:p.Val485Met
NM_001136114.1:c.1102G>A	NP_001129586.1:p.Val368Met
NM_007171.3:c.1519G>A	NP_009102.3:p.Val507Met
XM_005272156.1:c.1519G>A	XP_005272213.1:p.Val507Met
XM_005272158.1:c.1357G>A	XP_005272215.1:p.Val453Met
XM_005272159.1:c.1168G>A	XP_005272216.1:p.Val390Met
XM_005272162.1:c.322G>A	XP_005272219.1:p.Val108Met
XM_006716932.1:c.1168G>A	XP_006716995.1:p.Val390Met
XM_011518140.1:c.1372G>A	XP_011516442.1:p.Val458Met
XM_011518141.1:c.1306G>A	XP_011516443.1:p.Val436Met
XM_011518142.1:c.1210G>A	XP_011516444.1:p.Val404Met
XM_011518143.1:c.1204G>A	XP_011516445.1:p.Val402Met
XM_011518145.1:c.1063G>A	XP_011516447.1:p.Val355Met
XM_011518147.1:c.391G>A	XP_011516449.1:p.Val131Met
XR_929703.1:n.1695G>A
NM_001353193.1:c.1519G>A	NP_001340122.1:p.Val507Met
NM_001353194.1:c.1291G>A	NP_001340123.1:p.Val431Met
NM_001353195.1:c.1102G>A	NP_001340124.1:p.Val368Met
NM_001353196.1:c.1363G>A	NP_001340125.1:p.Val455Met
NM_001353197.1:c.1357G>A	NP_001340126.1:p.Val453Met
NM_001353198.1:c.1357G>A	NP_001340127.1:p.Val453Met
NM_001353199.1:c.1168G>A	NP_001340128.1:p.Val390Met
NM_001353200.1:c.997G>A	NP_001340129.1:p.Val333Met
NR_148391.1:n.1503G>A
NR_148392.1:n.1721G>A
NR_148393.1:n.1642G>A
NR_148394.1:n.1396G>A
NR_148395.1:n.1794G>A
NR_148396.1:n.1428G>A
NR_148397.1:n.1553G>A
NR_148398.1:n.1508G>A
NR_148399.1:n.2034G>A
NR_148400.1:n.1633G>A
XM_005272162.3:c.322G>A	XP_005272219.1:p.Val108Met
XM_006716932.2:c.1168G>A	XP_006716995.1:p.Val390Met
XM_011518140.2:c.1372G>A	XP_011516442.1:p.Val458Met
XM_011518141.2:c.1306G>A	XP_011516443.1:p.Val436Met
XM_011518142.2:c.1210G>A	XP_011516444.1:p.Val404Met
XM_011518143.2:c.1204G>A	XP_011516445.1:p.Val402Met
XM_011518145.2:c.1063G>A	XP_011516447.1:p.Val355Met
XM_017014205.2:c.322G>A	XP_016869694.1:p.Val108Met
XM_024447380.1:c.322G>A	XP_024303148.1:p.Val108Met
XM_024447381.1:c.628G>A	XP_024303149.1:p.Val210Met
XM_024447382.1:c.322G>A	XP_024303150.1:p.Val108Met
XR_001746160.2:n.1623G>A
XR_001746162.2:n.1828G>A
XR_001746164.1:n.1545G>A
XR_001746166.2:n.1840G>A
NM_001077365.2:c.1453G>A MANE Select	NP_001070833.1:p.Val485Met
NM_001077366.2:c.1291G>A	NP_001070834.1:p.Val431Met
NM_001136113.2:c.1453G>A	NP_001129585.1:p.Val485Met
NM_001136114.2:c.1102G>A	NP_001129586.1:p.Val368Met
NM_001353193.2:c.1519G>A	NP_001340122.2:p.Val507Met
NM_001353194.2:c.1291G>A	NP_001340123.1:p.Val431Met
NM_001353195.2:c.1102G>A	NP_001340124.1:p.Val368Met
NM_001353196.2:c.1363G>A	NP_001340125.1:p.Val455Met
NM_001353197.2:c.1357G>A	NP_001340126.2:p.Val453Met
NM_001353198.2:c.1357G>A	NP_001340127.2:p.Val453Met
NM_001353199.2:c.1168G>A	NP_001340128.2:p.Val390Met
NM_001353200.2:c.997G>A	NP_001340129.1:p.Val333Met
NM_001374689.1:c.1441G>A	NP_001361618.1:p.Val481Met
NM_001374690.1:c.1365+387G>A	NP_001361619.1:n.1365+387G>A
NM_001374691.1:c.1102G>A	NP_001361620.1:p.Val368Met
NM_001374692.1:c.1102G>A	NP_001361621.1:p.Val368Met
NM_001374693.1:c.1102G>A	NP_001361622.1:p.Val368Met
NM_001374695.1:c.1063G>A	NP_001361624.1:p.Val355Met
NM_007171.4:c.1519G>A	NP_009102.4:p.Val507Met
NR_148391.2:n.1487G>A
NR_148392.2:n.1705G>A
NR_148393.2:n.1626G>A
NR_148394.2:n.1380G>A
NR_148395.2:n.1778G>A
NR_148396.2:n.1412G>A
NR_148397.2:n.1537G>A
NR_148398.2:n.1492G>A
NR_148399.2:n.2018G>A
NR_148400.2:n.1617G>A