Canonical Allele Identifier: CA477139352

Gene: DPAGT1

Linked Data

• dbSNP Id: rs1178824669
• gnomAD v3: 11-119100310-G-A
• gnomAD v4: 11-119100310-G-A
• MyVariant Identifiers: chr11:g.118971020G>A (hg19) ; chr11:g.119100310G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119100310G>A , CM000673.2:g.119100310G>A	GRCh38
NC_000011.9:g.118971020G>A , CM000673.1:g.118971020G>A	GRCh37
NC_000011.8:g.118476230G>A	NCBI36
NG_008918.1:g.6766C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000445653.6:n.771C>T
ENST00000530052.2:n.1337C>T
ENST00000682191.1:n.797C>T
ENST00000682192.1:n.797C>T
ENST00000682232.1:c.*300C>T	ENSP00000507302.1:n.*300C>T
ENST00000682326.1:c.595C>T	ENSP00000508129.1:p.Leu199=
ENST00000682404.1:n.1337C>T
ENST00000682517.1:n.1337C>T
ENST00000682652.1:n.1566C>T
ENST00000682665.1:n.992C>T
ENST00000682691.1:n.992C>T
ENST00000682791.1:c.508C>T	ENSP00000507312.1:p.Leu170=
ENST00000682811.1:c.595C>T	ENSP00000508196.1:p.Leu199=
ENST00000682883.1:n.898C>T
ENST00000682946.1:c.595C>T	ENSP00000506856.1:p.Leu199=
ENST00000683143.1:c.*300C>T	ENSP00000507168.1:n.*300C>T
ENST00000683373.1:n.797C>T
ENST00000683558.1:n.797C>T
ENST00000683567.1:n.822C>T
ENST00000683955.1:n.992C>T
ENST00000684142.1:c.*270C>T	ENSP00000508008.1:n.*270C>T
ENST00000684252.1:n.992C>T
ENST00000684255.1:c.*300C>T	ENSP00000507398.1:n.*300C>T
ENST00000684315.1:n.1328C>T
ENST00000684345.1:c.*270C>T	ENSP00000507163.1:n.*270C>T
ENST00000684499.1:c.*700C>T	ENSP00000506800.1:n.*700C>T
ENST00000684682.1:c.*23C>T	ENSP00000507326.1:n.*23C>T
ENST00000354202.9:c.595C>T MANE Select	ENSP00000346142.4:p.Leu199=
ENST00000636404.1:c.99C>T
ENST00000638850.1:c.99C>T
ENST00000639704.1:c.502C>T	ENSP00000491336.1:p.Leu168=
ENST00000640102.1:c.*248C>T	ENSP00000492027.1:n.*248C>T
ENST00000640747.1:c.*270C>T	ENSP00000492730.1:n.*270C>T
ENST00000354202.8:c.595C>T	ENSP00000346142.4:p.Leu199=
ENST00000392834.7:c.*300C>T	ENSP00000376579.3:n.*300C>T
ENST00000409993.6:c.595C>T	ENSP00000386597.2:p.Leu199=
ENST00000414373.5:c.*341C>T	ENSP00000402019.1:n.*341C>T
ENST00000442480.1:c.445C>T	ENSP00000406591.1:p.Leu149=
ENST00000461999.1:n.100C>T
ENST00000481084.5:n.1224C>T
ENST00000525456.5:n.598C>T
ENST00000530052.1:n.493C>T
ENST00000533687.1:n.607C>T
NM_001382.3:c.595C>T	NP_001373.2:p.Leu199=
XM_005271422.2:c.595C>T	XP_005271479.1:p.Leu199=
XM_011542648.1:c.274C>T	XP_011540950.1:p.Leu92=
XR_947801.1:n.1031C>T
XM_005271422.3:c.595C>T	XP_005271479.1:p.Leu199=
XM_011542648.2:c.274C>T	XP_011540950.1:p.Leu92=
XM_017017293.2:c.274C>T	XP_016872782.1:p.Leu92=
XM_017017294.2:c.595C>T	XP_016872783.1:p.Leu199=
XM_017017295.1:c.79C>T	XP_016872784.1:p.Leu27=
XR_001747785.2:n.818C>T
XR_947801.2:n.818C>T
NM_001382.4:c.595C>T MANE Select	NP_001373.2:p.Leu199=