Canonical Allele Identifier: CA382909451

Gene: DPAGT1

Linked Data

• dbSNP Id: rs1946418696
• gnomAD v4: 11-119097472-T-G
• MyVariant Identifiers: chr11:g.118968182T>G (hg19) ; chr11:g.119097472T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119097472T>G , CM000673.2:g.119097472T>G	GRCh38
NC_000011.9:g.118968182T>G , CM000673.1:g.118968182T>G	GRCh37
NC_000011.8:g.118473392T>G	NCBI36
NG_008918.1:g.9604A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000445653.6:n.1055A>C
ENST00000524658.2:n.1036A>C
ENST00000530052.2:n.2042A>C
ENST00000682191.1:n.1502A>C
ENST00000682192.1:n.1199A>C
ENST00000682232.1:c.*623-175A>C	ENSP00000507302.1:n.*623-175A>C
ENST00000682326.1:c.918-175A>C	ENSP00000508129.1:n.918-175A>C
ENST00000682404.1:n.2098A>C
ENST00000682517.1:n.2401A>C
ENST00000682652.1:n.2271A>C
ENST00000682665.1:n.1697A>C
ENST00000682691.1:n.1697A>C
ENST00000682791.1:c.910A>C	ENSP00000507312.1:p.Ile304Leu
ENST00000682811.1:c.*48A>C	ENSP00000508196.1:n.*48A>C
ENST00000682883.1:n.1032-175A>C
ENST00000682946.1:c.*79A>C	ENSP00000506856.1:n.*79A>C
ENST00000683143.1:c.*702A>C	ENSP00000507168.1:n.*702A>C
ENST00000683373.1:n.1502A>C
ENST00000683558.1:n.1502A>C
ENST00000683567.1:n.1106A>C
ENST00000683955.1:n.1753A>C
ENST00000684142.1:c.*672A>C	ENSP00000508008.1:n.*672A>C
ENST00000684252.1:n.1394A>C
ENST00000684255.1:c.*702A>C	ENSP00000507398.1:n.*702A>C
ENST00000684315.1:n.1730A>C
ENST00000684345.1:c.*975A>C	ENSP00000507163.1:n.*975A>C
ENST00000684499.1:c.*1102A>C	ENSP00000506800.1:n.*1102A>C
ENST00000684682.1:c.*728A>C	ENSP00000507326.1:n.*728A>C
ENST00000354202.9:c.997A>C MANE Select	ENSP00000346142.4:p.Ile333Leu
ENST00000636404.1:c.233-409A>C
ENST00000638850.1:c.501A>C
ENST00000639704.1:c.904A>C	ENSP00000491336.1:p.Ile302Leu
ENST00000640102.1:c.*650A>C	ENSP00000492027.1:n.*650A>C
ENST00000640747.1:c.*672A>C	ENSP00000492730.1:n.*672A>C
ENST00000354202.8:c.997A>C	ENSP00000346142.4:p.Ile333Leu
ENST00000392834.7:c.*702A>C	ENSP00000376579.3:n.*702A>C
ENST00000409993.6:c.997A>C	ENSP00000386597.2:p.Ile333Leu
ENST00000414373.5:c.*475-175A>C	ENSP00000402019.1:n.*475-175A>C
ENST00000442480.1:c.729A>C	ENSP00000406591.1:n.729A>C
ENST00000461999.1:n.1164A>C
ENST00000481084.5:n.1626A>C
ENST00000524658.1:n.302A>C
ENST00000525456.5:n.811A>C
NM_001382.3:c.997A>C	NP_001373.2:p.Ile333Leu
XM_005271422.2:c.997A>C	XP_005271479.1:p.Ile333Leu
XM_011542648.1:c.676A>C	XP_011540950.1:p.Ile226Leu
XR_947801.1:n.1165-175A>C
XM_005271422.3:c.997A>C	XP_005271479.1:p.Ile333Leu
XM_011542648.2:c.676A>C	XP_011540950.1:p.Ile226Leu
XM_017017293.2:c.676A>C	XP_016872782.1:p.Ile226Leu
XM_017017294.2:c.*79A>C	XP_016872783.1:n.*79A>C
XM_017017295.1:c.481A>C	XP_016872784.1:p.Ile161Leu
XR_001747785.2:n.1031A>C
XR_947801.2:n.952-175A>C
NM_001382.4:c.997A>C MANE Select	NP_001373.2:p.Ile333Leu