Canonical Allele Identifier: CA5293712

Gene: POMT1

Linked Data

• ClinVar Variation Id: 1046756
• ClinVar RCV Id: RCV001351355
• dbSNP Id: rs142211950
• ExAC: 9:134394343 G / A
• gnomAD v2: 9-134394343-G-A
• gnomAD v3: 9-131518956-G-A
• gnomAD v4: 9-131518956-G-A
• MyVariant Identifiers: chr9:g.134394343G>A (hg19) ; chr9:g.131518956G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131518956G>A , CM000671.2:g.131518956G>A	GRCh38
NC_000009.11:g.134394343G>A , CM000671.1:g.134394343G>A	GRCh37
NC_000009.10:g.133384164G>A	NCBI36
NG_008896.1:g.21055G>A
NG_008896.2:g.21055G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000341012.13:c.1323G>A	ENSP00000343034.7:p.Ala441=
ENST00000404875.7:n.2025G>A
ENST00000423007.6:c.1542G>A	ENSP00000404119.2:p.Ala514=
ENST00000677295.2:c.*1829G>A	ENSP00000504346.2:n.*1829G>A
ENST00000678264.2:c.*1668G>A	ENSP00000503157.2:n.*1668G>A
ENST00000682070.1:n.1950G>A
ENST00000682539.1:c.423G>A
ENST00000682813.1:n.1889G>A
ENST00000683392.1:n.4232G>A
ENST00000683712.1:n.1890G>A
ENST00000683900.1:n.3385G>A
ENST00000684062.1:n.2151G>A
ENST00000684579.1:n.3331G>A
ENST00000684679.1:n.712G>A
ENST00000341012.12:c.1323G>A	ENSP00000343034.7:p.Ala441=
ENST00000372220.5:c.354G>A	ENSP00000361294.5:p.Ala118=
ENST00000372228.9:c.1551G>A	ENSP00000361302.3:p.Ala517=
ENST00000402686.8:c.1485G>A MANE Select	ENSP00000385797.4:p.Ala495=
ENST00000676640.1:c.1485G>A	ENSP00000503281.1:p.Ala495=
ENST00000676803.1:c.660G>A	ENSP00000503093.1:p.Ala220=
ENST00000676835.1:c.*700G>A	ENSP00000502911.1:n.*700G>A
ENST00000677029.1:c.1029G>A	ENSP00000502936.1:p.Ala343=
ENST00000677099.1:c.*1195G>A	ENSP00000504553.1:n.*1195G>A
ENST00000677216.1:c.1134G>A	ENSP00000503772.1:p.Ala378=
ENST00000677221.1:n.510G>A
ENST00000677295.1:c.*862G>A	ENSP00000504346.1:n.*862G>A
ENST00000677444.1:c.1430G>A
ENST00000677586.1:n.966G>A
ENST00000677626.1:c.1134G>A	ENSP00000503552.1:p.Ala378=
ENST00000677677.1:n.1445G>A
ENST00000677853.1:c.*493G>A	ENSP00000503488.1:n.*493G>A
ENST00000678202.1:n.644G>A
ENST00000678264.1:c.*862G>A	ENSP00000503157.1:n.*862G>A
ENST00000678303.1:c.1395G>A	ENSP00000503696.1:p.Ala465=
ENST00000678366.1:c.*1734G>A	ENSP00000504353.1:n.*1734G>A
ENST00000678546.1:c.*1430G>A	ENSP00000503062.1:n.*1430G>A
ENST00000678548.1:c.*1557G>A	ENSP00000503934.1:n.*1557G>A
ENST00000678626.1:n.1321G>A
ENST00000678733.1:c.566G>A
ENST00000678739.1:c.*1811G>A	ENSP00000503806.1:n.*1811G>A
ENST00000678833.1:c.*932G>A	ENSP00000503893.1:n.*932G>A
ENST00000679023.1:c.1323G>A	ENSP00000503718.1:p.Ala441=
ENST00000679076.1:c.1104G>A
ENST00000679111.1:c.*241G>A	ENSP00000504257.1:n.*241G>A
ENST00000679189.1:c.1134G>A	ENSP00000503356.1:p.Ala378=
ENST00000341012.11:c.1323G>A	ENSP00000343034.7:p.Ala441=
ENST00000372220.4:c.348G>A	ENSP00000361294.4:p.Ala116=
ENST00000372228.7:c.1551G>A	ENSP00000361302.3:p.Ala517=
ENST00000402686.7:c.1485G>A	ENSP00000385797.3:p.Ala495=
ENST00000404875.6:c.1134G>A	ENSP00000384531.2:p.Ala378=
ENST00000423007.5:c.1485G>A	ENSP00000404119.1:p.Ala495=
ENST00000467848.1:n.189G>A
ENST00000485278.5:n.2040G>A
NM_001077365.1:c.1485G>A	NP_001070833.1:p.Ala495=
NM_001077366.1:c.1323G>A	NP_001070834.1:p.Ala441=
NM_001136113.1:c.1485G>A	NP_001129585.1:p.Ala495=
NM_001136114.1:c.1134G>A	NP_001129586.1:p.Ala378=
NM_007171.3:c.1551G>A	NP_009102.3:p.Ala517=
XM_005272156.1:c.1551G>A	XP_005272213.1:p.Ala517=
XM_005272158.1:c.1389G>A	XP_005272215.1:p.Ala463=
XM_005272159.1:c.1200G>A	XP_005272216.1:p.Ala400=
XM_005272162.1:c.354G>A	XP_005272219.1:p.Ala118=
XM_006716932.1:c.1200G>A	XP_006716995.1:p.Ala400=
XM_011518140.1:c.1404G>A	XP_011516442.1:p.Ala468=
XM_011518141.1:c.1338G>A	XP_011516443.1:p.Ala446=
XM_011518142.1:c.1242G>A	XP_011516444.1:p.Ala414=
XM_011518143.1:c.1236G>A	XP_011516445.1:p.Ala412=
XM_011518145.1:c.1095G>A	XP_011516447.1:p.Ala365=
XM_011518147.1:c.423G>A	XP_011516449.1:p.Ala141=
XR_929703.1:n.1727G>A
NM_001353193.1:c.1551G>A	NP_001340122.1:p.Ala517=
NM_001353194.1:c.1323G>A	NP_001340123.1:p.Ala441=
NM_001353195.1:c.1134G>A	NP_001340124.1:p.Ala378=
NM_001353196.1:c.1395G>A	NP_001340125.1:p.Ala465=
NM_001353197.1:c.1389G>A	NP_001340126.1:p.Ala463=
NM_001353198.1:c.1389G>A	NP_001340127.1:p.Ala463=
NM_001353199.1:c.1200G>A	NP_001340128.1:p.Ala400=
NM_001353200.1:c.1029G>A	NP_001340129.1:p.Ala343=
NR_148391.1:n.1535G>A
NR_148392.1:n.1753G>A
NR_148393.1:n.1674G>A
NR_148394.1:n.1428G>A
NR_148395.1:n.1826G>A
NR_148396.1:n.1460G>A
NR_148397.1:n.1585G>A
NR_148398.1:n.1540G>A
NR_148399.1:n.2066G>A
NR_148400.1:n.1665G>A
XM_005272162.3:c.354G>A	XP_005272219.1:p.Ala118=
XM_006716932.2:c.1200G>A	XP_006716995.1:p.Ala400=
XM_011518140.2:c.1404G>A	XP_011516442.1:p.Ala468=
XM_011518141.2:c.1338G>A	XP_011516443.1:p.Ala446=
XM_011518142.2:c.1242G>A	XP_011516444.1:p.Ala414=
XM_011518143.2:c.1236G>A	XP_011516445.1:p.Ala412=
XM_011518145.2:c.1095G>A	XP_011516447.1:p.Ala365=
XM_017014205.2:c.354G>A	XP_016869694.1:p.Ala118=
XM_024447380.1:c.354G>A	XP_024303148.1:p.Ala118=
XM_024447381.1:c.660G>A	XP_024303149.1:p.Ala220=
XM_024447382.1:c.354G>A	XP_024303150.1:p.Ala118=
XR_001746160.2:n.1655G>A
XR_001746162.2:n.1860G>A
XR_001746164.1:n.1577G>A
XR_001746166.2:n.1872G>A
NM_001077365.2:c.1485G>A MANE Select	NP_001070833.1:p.Ala495=
NM_001077366.2:c.1323G>A	NP_001070834.1:p.Ala441=
NM_001136113.2:c.1485G>A	NP_001129585.1:p.Ala495=
NM_001136114.2:c.1134G>A	NP_001129586.1:p.Ala378=
NM_001353193.2:c.1551G>A	NP_001340122.2:p.Ala517=
NM_001353194.2:c.1323G>A	NP_001340123.1:p.Ala441=
NM_001353195.2:c.1134G>A	NP_001340124.1:p.Ala378=
NM_001353196.2:c.1395G>A	NP_001340125.1:p.Ala465=
NM_001353197.2:c.1389G>A	NP_001340126.2:p.Ala463=
NM_001353198.2:c.1389G>A	NP_001340127.2:p.Ala463=
NM_001353199.2:c.1200G>A	NP_001340128.2:p.Ala400=
NM_001353200.2:c.1029G>A	NP_001340129.1:p.Ala343=
NM_001374689.1:c.1473G>A	NP_001361618.1:p.Ala491=
NM_001374690.1:c.1365+419G>A	NP_001361619.1:n.1365+419G>A
NM_001374691.1:c.1134G>A	NP_001361620.1:p.Ala378=
NM_001374692.1:c.1134G>A	NP_001361621.1:p.Ala378=
NM_001374693.1:c.1134G>A	NP_001361622.1:p.Ala378=
NM_001374695.1:c.1095G>A	NP_001361624.1:p.Ala365=
NM_007171.4:c.1551G>A	NP_009102.4:p.Ala517=
NR_148391.2:n.1519G>A
NR_148392.2:n.1737G>A
NR_148393.2:n.1658G>A
NR_148394.2:n.1412G>A
NR_148395.2:n.1810G>A
NR_148396.2:n.1444G>A
NR_148397.2:n.1569G>A
NR_148398.2:n.1524G>A
NR_148399.2:n.2050G>A
NR_148400.2:n.1649G>A