Canonical Allele Identifier: CA233914

Gene: DPAGT1

Linked Data

• ClinVar Variation Id: 167007
• ClinVar RCV Id: RCV000153164 ; RCV000332550 ; RCV000537045 ; RCV001105862
• dbSNP Id: rs138544311
• ExAC: 11:118968185 A / C
• gnomAD v2: 11-118968185-A-C
• gnomAD v3: 11-119097475-A-C
• gnomAD v4: 11-119097475-A-C
• MyVariant Identifiers: chr11:g.118968185A>C (hg19) ; chr11:g.119097475A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119097475A>C , CM000673.2:g.119097475A>C	GRCh38
NC_000011.9:g.118968185A>C , CM000673.1:g.118968185A>C	GRCh37
NC_000011.8:g.118473395A>C	NCBI36
NG_008918.1:g.9601T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000445653.6:n.1052T>G
ENST00000524658.2:n.1033T>G
ENST00000530052.2:n.2039T>G
ENST00000682191.1:n.1499T>G
ENST00000682192.1:n.1196T>G
ENST00000682232.1:c.*623-178T>G	ENSP00000507302.1:n.*623-178T>G
ENST00000682326.1:c.918-178T>G	ENSP00000508129.1:n.918-178T>G
ENST00000682404.1:n.2095T>G
ENST00000682517.1:n.2398T>G
ENST00000682652.1:n.2268T>G
ENST00000682665.1:n.1694T>G
ENST00000682691.1:n.1694T>G
ENST00000682791.1:c.907T>G	ENSP00000507312.1:p.Phe303Val
ENST00000682811.1:c.*45T>G	ENSP00000508196.1:n.*45T>G
ENST00000682883.1:n.1032-178T>G
ENST00000682946.1:c.*76T>G	ENSP00000506856.1:n.*76T>G
ENST00000683143.1:c.*699T>G	ENSP00000507168.1:n.*699T>G
ENST00000683373.1:n.1499T>G
ENST00000683558.1:n.1499T>G
ENST00000683567.1:n.1103T>G
ENST00000683955.1:n.1750T>G
ENST00000684142.1:c.*669T>G	ENSP00000508008.1:n.*669T>G
ENST00000684252.1:n.1391T>G
ENST00000684255.1:c.*699T>G	ENSP00000507398.1:n.*699T>G
ENST00000684315.1:n.1727T>G
ENST00000684345.1:c.*972T>G	ENSP00000507163.1:n.*972T>G
ENST00000684499.1:c.*1099T>G	ENSP00000506800.1:n.*1099T>G
ENST00000684682.1:c.*725T>G	ENSP00000507326.1:n.*725T>G
ENST00000354202.9:c.994T>G MANE Select	ENSP00000346142.4:p.Phe332Val
ENST00000636404.1:c.233-412T>G
ENST00000638850.1:c.498T>G
ENST00000639704.1:c.901T>G	ENSP00000491336.1:p.Phe301Val
ENST00000640102.1:c.*647T>G	ENSP00000492027.1:n.*647T>G
ENST00000640747.1:c.*669T>G	ENSP00000492730.1:n.*669T>G
ENST00000354202.8:c.994T>G	ENSP00000346142.4:p.Phe332Val
ENST00000392834.7:c.*699T>G	ENSP00000376579.3:n.*699T>G
ENST00000409993.6:c.994T>G	ENSP00000386597.2:p.Phe332Val
ENST00000414373.5:c.*475-178T>G	ENSP00000402019.1:n.*475-178T>G
ENST00000442480.1:c.726T>G	ENSP00000406591.1:n.726T>G
ENST00000461999.1:n.1161T>G
ENST00000481084.5:n.1623T>G
ENST00000524658.1:n.299T>G
ENST00000525456.5:n.808T>G
NM_001382.3:c.994T>G	NP_001373.2:p.Phe332Val
XM_005271422.2:c.994T>G	XP_005271479.1:p.Phe332Val
XM_011542648.1:c.673T>G	XP_011540950.1:p.Phe225Val
XR_947801.1:n.1165-178T>G
XM_005271422.3:c.994T>G	XP_005271479.1:p.Phe332Val
XM_011542648.2:c.673T>G	XP_011540950.1:p.Phe225Val
XM_017017293.2:c.673T>G	XP_016872782.1:p.Phe225Val
XM_017017294.2:c.*76T>G	XP_016872783.1:n.*76T>G
XM_017017295.1:c.478T>G	XP_016872784.1:p.Phe160Val
XR_001747785.2:n.1028T>G
XR_947801.2:n.952-178T>G
NM_001382.4:c.994T>G MANE Select	NP_001373.2:p.Phe332Val