Canonical Allele Identifier: CA382917649
Community Standard Title: NM_001382.4(DPAGT1):c.2T>C (p.Met1Thr)
Gene: DPAGT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119101654A>G , CM000673.2:g.119101654A>G GRCh38
NC_000011.9:g.118972364A>G , CM000673.1:g.118972364A>G GRCh37
NC_000011.8:g.118477574A>G NCBI36
NG_008918.1:g.5422T>C

Transcript Alleles

HGVS Amino-acid Change
NM_001382.4:c.2T>C MANE Select NP_001373.2:p.Met1Thr
ENST00000354202.9:c.2T>C MANE Select ENSP00000346142.4:p.Met1Thr
NM_001382.3:c.2T>C NP_001373.2:p.Met1Thr
ENST00000354202.8:c.2T>C ENSP00000346142.4:p.Met1Thr
ENST00000392834.7:c.2T>C ENSP00000376579.3:p.Met1Thr
ENST00000409993.6:c.2T>C ENSP00000386597.2:p.Met1Thr
ENST00000414373.5:c.2T>C ENSP00000402019.1:p.Met1Thr
ENST00000442480.1:c.132+586T>C ENSP00000406591.1:n.132+586T>C
ENST00000445653.5:n.179T>C
ENST00000445653.6:n.178T>C
ENST00000460183.1:n.207T>C
ENST00000472016.1:n.200T>C
ENST00000481084.5:n.489T>C
ENST00000530052.2:n.214T>C
ENST00000639704.1:c.2T>C ENSP00000491336.1:p.Met1Thr
ENST00000640102.1:c.2T>C ENSP00000492027.1:p.Met1Thr
ENST00000640747.1:c.2T>C ENSP00000492730.1:p.Met1Thr
ENST00000682191.1:n.204T>C
ENST00000682192.1:n.204T>C
ENST00000682232.1:c.2T>C ENSP00000507302.1:p.Met1Thr
ENST00000682326.1:c.2T>C ENSP00000508129.1:p.Met1Thr
ENST00000682404.1:n.214T>C
ENST00000682517.1:n.214T>C
ENST00000682652.1:n.443T>C
ENST00000682665.1:n.225T>C
ENST00000682691.1:n.225T>C
ENST00000682791.1:c.2T>C ENSP00000507312.1:p.Met1Thr
ENST00000682811.1:c.2T>C ENSP00000508196.1:p.Met1Thr
ENST00000682946.1:c.2T>C ENSP00000506856.1:p.Met1Thr
ENST00000683143.1:c.2T>C ENSP00000507168.1:p.Met1Thr
ENST00000683373.1:n.204T>C
ENST00000683558.1:n.204T>C
ENST00000683955.1:n.225T>C
ENST00000684142.1:c.2T>C ENSP00000508008.1:p.Met1Thr
ENST00000684252.1:n.225T>C
ENST00000684255.1:c.2T>C ENSP00000507398.1:p.Met1Thr
ENST00000684315.1:n.205T>C
ENST00000684345.1:c.2T>C ENSP00000507163.1:p.Met1Thr
ENST00000684499.1:c.2T>C ENSP00000506800.1:p.Met1Thr
ENST00000684682.1:c.2T>C ENSP00000507326.1:p.Met1Thr
XM_005271422.2:c.2T>C XP_005271479.1:p.Met1Thr
XM_005271422.3:c.2T>C XP_005271479.1:p.Met1Thr
XM_011542648.1:c.-199T>C XP_011540950.1:n.-199T>C
XM_011542648.2:c.-199T>C XP_011540950.1:n.-199T>C
XM_017017293.2:c.-199T>C XP_016872782.1:n.-199T>C
XM_017017294.2:c.2T>C XP_016872783.1:p.Met1Thr
XM_017017295.1:c.-180T>C XP_016872784.1:n.-180T>C
XR_001747785.2:n.225T>C
XR_947801.1:n.438T>C
XR_947801.2:n.225T>C