Canonical Allele Identifier: CA382910075
Gene: DPAGT1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119097549A>G , CM000673.2:g.119097549A>G GRCh38
NC_000011.9:g.118968259A>G , CM000673.1:g.118968259A>G GRCh37
NC_000011.8:g.118473469A>G NCBI36
NG_008918.1:g.9527T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000445653.6:n.978T>C
ENST00000524658.2:n.959T>C
ENST00000530052.2:n.1965T>C
ENST00000682191.1:n.1425T>C
ENST00000682192.1:n.1122T>C
ENST00000682232.1:c.*623-252T>C ENSP00000507302.1:n.*623-252T>C
ENST00000682326.1:c.918-252T>C ENSP00000508129.1:n.918-252T>C
ENST00000682404.1:n.2021T>C
ENST00000682517.1:n.2324T>C
ENST00000682652.1:n.2194T>C
ENST00000682665.1:n.1620T>C
ENST00000682691.1:n.1620T>C
ENST00000682791.1:c.833T>C ENSP00000507312.1:p.Leu278Pro
ENST00000682811.1:c.802T>C ENSP00000508196.1:p.Ser268Pro
ENST00000682883.1:n.1032-252T>C
ENST00000682946.1:c.*2T>C ENSP00000506856.1:n.*2T>C
ENST00000683143.1:c.*625T>C ENSP00000507168.1:n.*625T>C
ENST00000683373.1:n.1425T>C
ENST00000683558.1:n.1425T>C
ENST00000683567.1:n.1029T>C
ENST00000683955.1:n.1676T>C
ENST00000684142.1:c.*595T>C ENSP00000508008.1:n.*595T>C
ENST00000684252.1:n.1317T>C
ENST00000684255.1:c.*625T>C ENSP00000507398.1:n.*625T>C
ENST00000684315.1:n.1653T>C
ENST00000684345.1:c.*898T>C ENSP00000507163.1:n.*898T>C
ENST00000684499.1:c.*1025T>C ENSP00000506800.1:n.*1025T>C
ENST00000684682.1:c.*651T>C ENSP00000507326.1:n.*651T>C
ENST00000354202.9:c.920T>C MANE Select ENSP00000346142.4:p.Leu307Pro
ENST00000636404.1:c.233-486T>C
ENST00000638850.1:c.424T>C
ENST00000639704.1:c.827T>C ENSP00000491336.1:p.Leu276Pro
ENST00000640102.1:c.*573T>C ENSP00000492027.1:n.*573T>C
ENST00000640747.1:c.*595T>C ENSP00000492730.1:n.*595T>C
ENST00000354202.8:c.920T>C ENSP00000346142.4:p.Leu307Pro
ENST00000392834.7:c.*625T>C ENSP00000376579.3:n.*625T>C
ENST00000409993.6:c.920T>C ENSP00000386597.2:p.Leu307Pro
ENST00000414373.5:c.*475-252T>C ENSP00000402019.1:n.*475-252T>C
ENST00000442480.1:c.652T>C ENSP00000406591.1:p.Ser218Pro
ENST00000461999.1:n.1087T>C
ENST00000481084.5:n.1549T>C
ENST00000524658.1:n.225T>C
ENST00000525456.5:n.734T>C
NM_001382.3:c.920T>C NP_001373.2:p.Leu307Pro
XM_005271422.2:c.920T>C XP_005271479.1:p.Leu307Pro
XM_011542648.1:c.599T>C XP_011540950.1:p.Leu200Pro
XR_947801.1:n.1165-252T>C
XM_005271422.3:c.920T>C XP_005271479.1:p.Leu307Pro
XM_011542648.2:c.599T>C XP_011540950.1:p.Leu200Pro
XM_017017293.2:c.599T>C XP_016872782.1:p.Leu200Pro
XM_017017294.2:c.*2T>C XP_016872783.1:n.*2T>C
XM_017017295.1:c.404T>C XP_016872784.1:p.Leu135Pro
XR_001747785.2:n.954T>C
XR_947801.2:n.952-252T>C
NM_001382.4:c.920T>C MANE Select NP_001373.2:p.Leu307Pro