Canonical Allele Identifier: CA382909967

Gene: DPAGT1

Linked Data

• dbSNP Id: rs1273302857
• gnomAD v2: 11-118968232-A-G
• gnomAD v4: 11-119097522-A-G
• MyVariant Identifiers: chr11:g.118968232A>G (hg19) ; chr11:g.119097522A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119097522A>G , CM000673.2:g.119097522A>G	GRCh38
NC_000011.9:g.118968232A>G , CM000673.1:g.118968232A>G	GRCh37
NC_000011.8:g.118473442A>G	NCBI36
NG_008918.1:g.9554T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000445653.6:n.1005T>C
ENST00000524658.2:n.986T>C
ENST00000530052.2:n.1992T>C
ENST00000682191.1:n.1452T>C
ENST00000682192.1:n.1149T>C
ENST00000682232.1:c.*623-225T>C	ENSP00000507302.1:n.*623-225T>C
ENST00000682326.1:c.918-225T>C	ENSP00000508129.1:n.918-225T>C
ENST00000682404.1:n.2048T>C
ENST00000682517.1:n.2351T>C
ENST00000682652.1:n.2221T>C
ENST00000682665.1:n.1647T>C
ENST00000682691.1:n.1647T>C
ENST00000682791.1:c.860T>C	ENSP00000507312.1:p.Met287Thr
ENST00000682811.1:c.829T>C	ENSP00000508196.1:p.Ter277Arg
ENST00000682883.1:n.1032-225T>C
ENST00000682946.1:c.*29T>C	ENSP00000506856.1:n.*29T>C
ENST00000683143.1:c.*652T>C	ENSP00000507168.1:n.*652T>C
ENST00000683373.1:n.1452T>C
ENST00000683558.1:n.1452T>C
ENST00000683567.1:n.1056T>C
ENST00000683955.1:n.1703T>C
ENST00000684142.1:c.*622T>C	ENSP00000508008.1:n.*622T>C
ENST00000684252.1:n.1344T>C
ENST00000684255.1:c.*652T>C	ENSP00000507398.1:n.*652T>C
ENST00000684315.1:n.1680T>C
ENST00000684345.1:c.*925T>C	ENSP00000507163.1:n.*925T>C
ENST00000684499.1:c.*1052T>C	ENSP00000506800.1:n.*1052T>C
ENST00000684682.1:c.*678T>C	ENSP00000507326.1:n.*678T>C
ENST00000354202.9:c.947T>C MANE Select	ENSP00000346142.4:p.Met316Thr
ENST00000636404.1:c.233-459T>C
ENST00000638850.1:c.451T>C
ENST00000639704.1:c.854T>C	ENSP00000491336.1:p.Met285Thr
ENST00000640102.1:c.*600T>C	ENSP00000492027.1:n.*600T>C
ENST00000640747.1:c.*622T>C	ENSP00000492730.1:n.*622T>C
ENST00000354202.8:c.947T>C	ENSP00000346142.4:p.Met316Thr
ENST00000392834.7:c.*652T>C	ENSP00000376579.3:n.*652T>C
ENST00000409993.6:c.947T>C	ENSP00000386597.2:p.Met316Thr
ENST00000414373.5:c.*475-225T>C	ENSP00000402019.1:n.*475-225T>C
ENST00000442480.1:c.679T>C	ENSP00000406591.1:p.Ter227Arg
ENST00000461999.1:n.1114T>C
ENST00000481084.5:n.1576T>C
ENST00000524658.1:n.252T>C
ENST00000525456.5:n.761T>C
NM_001382.3:c.947T>C	NP_001373.2:p.Met316Thr
XM_005271422.2:c.947T>C	XP_005271479.1:p.Met316Thr
XM_011542648.1:c.626T>C	XP_011540950.1:p.Met209Thr
XR_947801.1:n.1165-225T>C
XM_005271422.3:c.947T>C	XP_005271479.1:p.Met316Thr
XM_011542648.2:c.626T>C	XP_011540950.1:p.Met209Thr
XM_017017293.2:c.626T>C	XP_016872782.1:p.Met209Thr
XM_017017294.2:c.*29T>C	XP_016872783.1:n.*29T>C
XM_017017295.1:c.431T>C	XP_016872784.1:p.Met144Thr
XR_001747785.2:n.981T>C
XR_947801.2:n.952-225T>C
NM_001382.4:c.947T>C MANE Select	NP_001373.2:p.Met316Thr