Canonical Allele Identifier: CA6314685
Community Standard Title: NM_001382.4(DPAGT1):c.250A>C (p.Lys84Gln)
Gene: DPAGT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119101050T>G , CM000673.2:g.119101050T>G GRCh38
NC_000011.9:g.118971760T>G , CM000673.1:g.118971760T>G GRCh37
NC_000011.8:g.118476970T>G NCBI36
NG_008918.1:g.6026A>C

Transcript Alleles

HGVS Amino-acid Change
NM_001382.4:c.250A>C MANE Select NP_001373.2:p.Lys84Gln
ENST00000354202.9:c.250A>C MANE Select ENSP00000346142.4:p.Lys84Gln
NM_001382.3:c.250A>C NP_001373.2:p.Lys84Gln
ENST00000354202.8:c.250A>C ENSP00000346142.4:p.Lys84Gln
ENST00000392834.7:c.162-207A>C ENSP00000376579.3:n.162-207A>C
ENST00000409993.6:c.250A>C ENSP00000386597.2:p.Lys84Gln
ENST00000414373.5:c.250A>C ENSP00000402019.1:p.Lys84Gln
ENST00000442480.1:c.133-207A>C ENSP00000406591.1:n.133-207A>C
ENST00000445653.5:n.339-3A>C
ENST00000445653.6:n.426A>C
ENST00000460183.1:n.811A>C
ENST00000472016.1:n.448A>C
ENST00000481084.5:n.1093A>C
ENST00000525456.5:n.79A>C
ENST00000530052.2:n.818A>C
ENST00000639704.1:c.250A>C ENSP00000491336.1:p.Lys84Gln
ENST00000640102.1:c.162-223A>C ENSP00000492027.1:n.162-223A>C
ENST00000640747.1:c.250A>C ENSP00000492730.1:p.Lys84Gln
ENST00000682191.1:n.452A>C
ENST00000682192.1:n.452A>C
ENST00000682232.1:c.162-207A>C ENSP00000507302.1:n.162-207A>C
ENST00000682326.1:c.250A>C ENSP00000508129.1:p.Lys84Gln
ENST00000682404.1:n.818A>C
ENST00000682517.1:n.818A>C
ENST00000682652.1:n.1047A>C
ENST00000682665.1:n.473A>C
ENST00000682691.1:n.473A>C
ENST00000682791.1:c.162-173A>C ENSP00000507312.1:n.162-173A>C
ENST00000682811.1:c.250A>C ENSP00000508196.1:p.Lys84Gln
ENST00000682883.1:n.379A>C
ENST00000682946.1:c.250A>C ENSP00000506856.1:p.Lys84Gln
ENST00000683143.1:c.162-3A>C ENSP00000507168.1:n.162-3A>C
ENST00000683373.1:n.452A>C
ENST00000683558.1:n.452A>C
ENST00000683567.1:n.477A>C
ENST00000683955.1:n.473A>C
ENST00000684142.1:c.250A>C ENSP00000508008.1:p.Lys84Gln
ENST00000684252.1:n.473A>C
ENST00000684255.1:c.162-207A>C ENSP00000507398.1:n.162-207A>C
ENST00000684315.1:n.809A>C
ENST00000684345.1:c.250A>C ENSP00000507163.1:p.Lys84Gln
ENST00000684499.1:c.*181A>C ENSP00000506800.1:n.*181A>C
ENST00000684682.1:c.161+445A>C ENSP00000507326.1:n.161+445A>C
XM_005271422.2:c.250A>C XP_005271479.1:p.Lys84Gln
XM_005271422.3:c.250A>C XP_005271479.1:p.Lys84Gln
XM_011542648.1:c.-39-207A>C XP_011540950.1:n.-39-207A>C
XM_011542648.2:c.-39-207A>C XP_011540950.1:n.-39-207A>C
XM_017017293.2:c.-39-207A>C XP_016872782.1:n.-39-207A>C
XM_017017294.2:c.250A>C XP_016872783.1:p.Lys84Gln
XM_017017295.1:c.-21+445A>C XP_016872784.1:n.-21+445A>C
XR_001747785.2:n.473A>C
XR_947801.1:n.686A>C
XR_947801.2:n.473A>C