Canonical Allele Identifier: CA382909338

Gene: DPAGT1

Linked Data

• ClinVar Variation Id: 2954181
• ClinVar RCV Id: RCV003813404
• gnomAD v4: 11-119097463-C-T
• MyVariant Identifiers: chr11:g.118968173C>T (hg19) ; chr11:g.119097463C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119097463C>T , CM000673.2:g.119097463C>T	GRCh38
NC_000011.9:g.118968173C>T , CM000673.1:g.118968173C>T	GRCh37
NC_000011.8:g.118473383C>T	NCBI36
NG_008918.1:g.9613G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000445653.6:n.1064G>A
ENST00000524658.2:n.1045G>A
ENST00000530052.2:n.2051G>A
ENST00000682191.1:n.1510+1G>A
ENST00000682192.1:n.1208G>A
ENST00000682232.1:c.*623-166G>A	ENSP00000507302.1:n.*623-166G>A
ENST00000682326.1:c.918-166G>A	ENSP00000508129.1:n.918-166G>A
ENST00000682404.1:n.2107G>A
ENST00000682517.1:n.2410G>A
ENST00000682652.1:n.2279+1G>A
ENST00000682665.1:n.1706G>A
ENST00000682691.1:n.1706G>A
ENST00000682791.1:c.918+1G>A	ENSP00000507312.1:n.918+1G>A
ENST00000682811.1:c.*56+1G>A	ENSP00000508196.1:n.*56+1G>A
ENST00000682883.1:n.1032-166G>A
ENST00000682946.1:c.*87+1G>A	ENSP00000506856.1:n.*87+1G>A
ENST00000683143.1:c.*710+1G>A	ENSP00000507168.1:n.*710+1G>A
ENST00000683373.1:n.1510+1G>A
ENST00000683558.1:n.1511G>A
ENST00000683567.1:n.1114+1G>A
ENST00000683955.1:n.1761+1G>A
ENST00000684142.1:c.*681G>A	ENSP00000508008.1:n.*681G>A
ENST00000684252.1:n.1403G>A
ENST00000684255.1:c.*711G>A	ENSP00000507398.1:n.*711G>A
ENST00000684315.1:n.1738+1G>A
ENST00000684345.1:c.*984G>A	ENSP00000507163.1:n.*984G>A
ENST00000684499.1:c.*1111G>A	ENSP00000506800.1:n.*1111G>A
ENST00000684682.1:c.*737G>A	ENSP00000507326.1:n.*737G>A
ENST00000354202.9:c.1005+1G>A MANE Select	ENSP00000346142.4:n.1005+1G>A
ENST00000636404.1:c.233-400G>A
ENST00000638850.1:c.510G>A
ENST00000639704.1:c.912+1G>A	ENSP00000491336.1:n.912+1G>A
ENST00000640102.1:c.*658+1G>A	ENSP00000492027.1:n.*658+1G>A
ENST00000640747.1:c.*680+1G>A	ENSP00000492730.1:n.*680+1G>A
ENST00000354202.8:c.1005+1G>A	ENSP00000346142.4:n.1005+1G>A
ENST00000392834.7:c.*710+1G>A	ENSP00000376579.3:n.*710+1G>A
ENST00000409993.6:c.1005+1G>A	ENSP00000386597.2:n.1005+1G>A
ENST00000414373.5:c.*475-166G>A	ENSP00000402019.1:n.*475-166G>A
ENST00000442480.1:c.737+1G>A	ENSP00000406591.1:n.737+1G>A
ENST00000461999.1:n.1173G>A
ENST00000481084.5:n.1634+1G>A
ENST00000524658.1:n.311G>A
ENST00000525456.5:n.820G>A
NM_001382.3:c.1005+1G>A	NP_001373.2:n.1005+1G>A
XM_005271422.2:c.1005+1G>A	XP_005271479.1:n.1005+1G>A
XM_011542648.1:c.684+1G>A	XP_011540950.1:n.684+1G>A
XR_947801.1:n.1165-166G>A
XM_005271422.3:c.1005+1G>A	XP_005271479.1:n.1005+1G>A
XM_011542648.2:c.684+1G>A	XP_011540950.1:n.684+1G>A
XM_017017293.2:c.684+1G>A	XP_016872782.1:n.684+1G>A
XM_017017294.2:c.*88G>A	XP_016872783.1:n.*88G>A
XM_017017295.1:c.489+1G>A	XP_016872784.1:n.489+1G>A
XR_001747785.2:n.1039+1G>A
XR_947801.2:n.952-166G>A
NM_001382.4:c.1005+1G>A MANE Select	NP_001373.2:n.1005+1G>A