Canonical Allele Identifier: CA6314530
Community Standard Title: NM_001382.4(DPAGT1):c.790G>A (p.Val264Met)
Gene: DPAGT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119097982C>T , CM000673.2:g.119097982C>T GRCh38
NC_000011.9:g.118968692C>T , CM000673.1:g.118968692C>T GRCh37
NC_000011.8:g.118473902C>T NCBI36
NG_008918.1:g.9094G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001382.4:c.790G>A MANE Select NP_001373.2:p.Val264Met
ENST00000354202.9:c.790G>A MANE Select ENSP00000346142.4:p.Val264Met
NM_001382.3:c.790G>A NP_001373.2:p.Val264Met
ENST00000354202.8:c.790G>A ENSP00000346142.4:p.Val264Met
ENST00000392834.7:c.*495G>A ENSP00000376579.3:n.*495G>A
ENST00000409993.6:c.790G>A ENSP00000386597.2:p.Val264Met
ENST00000414373.5:c.*474+421G>A ENSP00000402019.1:n.*474+421G>A
ENST00000442480.1:c.579-57G>A ENSP00000406591.1:n.579-57G>A
ENST00000445653.6:n.905-57G>A
ENST00000461999.1:n.654G>A
ENST00000481084.5:n.1419G>A
ENST00000524658.1:n.95G>A
ENST00000524658.2:n.829G>A
ENST00000525456.5:n.731+421G>A
ENST00000530052.1:n.688G>A
ENST00000530052.2:n.1532G>A
ENST00000636404.1:c.232+421G>A
ENST00000638850.1:c.294G>A
ENST00000639704.1:c.697G>A ENSP00000491336.1:p.Val233Met
ENST00000640102.1:c.*443G>A ENSP00000492027.1:n.*443G>A
ENST00000640747.1:c.*465G>A ENSP00000492730.1:n.*465G>A
ENST00000682191.1:n.992G>A
ENST00000682192.1:n.992G>A
ENST00000682232.1:c.*495G>A ENSP00000507302.1:n.*495G>A
ENST00000682326.1:c.790G>A ENSP00000508129.1:p.Val264Met
ENST00000682404.1:n.1891G>A
ENST00000682517.1:n.1891G>A
ENST00000682652.1:n.1761G>A
ENST00000682665.1:n.1187G>A
ENST00000682691.1:n.1187G>A
ENST00000682791.1:c.703G>A ENSP00000507312.1:p.Val235Met
ENST00000682811.1:c.729-57G>A ENSP00000508196.1:n.729-57G>A
ENST00000682883.1:n.1031+421G>A
ENST00000682946.1:c.728+421G>A ENSP00000506856.1:n.728+421G>A
ENST00000683143.1:c.*495G>A ENSP00000507168.1:n.*495G>A
ENST00000683373.1:n.992G>A
ENST00000683558.1:n.992G>A
ENST00000683567.1:n.956-57G>A
ENST00000683955.1:n.1546G>A
ENST00000684142.1:c.*465G>A ENSP00000508008.1:n.*465G>A
ENST00000684252.1:n.1187G>A
ENST00000684255.1:c.*495G>A ENSP00000507398.1:n.*495G>A
ENST00000684315.1:n.1523G>A
ENST00000684345.1:c.*465G>A ENSP00000507163.1:n.*465G>A
ENST00000684499.1:c.*895G>A ENSP00000506800.1:n.*895G>A
ENST00000684682.1:c.*218G>A ENSP00000507326.1:n.*218G>A
XM_005271422.2:c.790G>A XP_005271479.1:p.Val264Met
XM_005271422.3:c.790G>A XP_005271479.1:p.Val264Met
XM_011542648.1:c.469G>A XP_011540950.1:p.Val157Met
XM_011542648.2:c.469G>A XP_011540950.1:p.Val157Met
XM_017017293.2:c.469G>A XP_016872782.1:p.Val157Met
XM_017017294.2:c.728+421G>A XP_016872783.1:n.728+421G>A
XM_017017295.1:c.274G>A XP_016872784.1:p.Val92Met
XR_001747785.2:n.951+421G>A
XR_947801.1:n.1164+421G>A
XR_947801.2:n.951+421G>A