Canonical Allele Identifier: CA6314645

Gene: DPAGT1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119100766C>G , CM000673.2:g.119100766C>G	GRCh38
NC_000011.9:g.118971476C>G , CM000673.1:g.118971476C>G	GRCh37
NC_000011.8:g.118476686C>G	NCBI36
NG_008918.1:g.6310G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001382.4:c.360G>C MANE Select	NP_001373.2:p.Leu120=
ENST00000354202.9:c.360G>C MANE Select	ENSP00000346142.4:p.Leu120=
NM_001382.3:c.360G>C	NP_001373.2:p.Leu120=
ENST00000354202.8:c.360G>C	ENSP00000346142.4:p.Leu120=
ENST00000392834.7:c.*65G>C	ENSP00000376579.3:n.*65G>C
ENST00000409993.6:c.360G>C	ENSP00000386597.2:p.Leu120=
ENST00000414373.5:c.*106G>C	ENSP00000402019.1:n.*106G>C
ENST00000442480.1:c.210G>C	ENSP00000406591.1:p.Leu70=
ENST00000445653.5:n.446G>C
ENST00000445653.6:n.536G>C
ENST00000460183.1:n.921G>C
ENST00000481084.5:n.1125+252G>C
ENST00000525456.5:n.363G>C
ENST00000530052.1:n.258G>C
ENST00000530052.2:n.1102G>C
ENST00000533687.1:n.151G>C
ENST00000639704.1:c.283-16G>C	ENSP00000491336.1:n.283-16G>C
ENST00000640102.1:c.*13G>C	ENSP00000492027.1:n.*13G>C
ENST00000640747.1:c.*35G>C	ENSP00000492730.1:n.*35G>C
ENST00000682191.1:n.562G>C
ENST00000682192.1:n.562G>C
ENST00000682232.1:c.*65G>C	ENSP00000507302.1:n.*65G>C
ENST00000682326.1:c.360G>C	ENSP00000508129.1:p.Leu120=
ENST00000682404.1:n.1102G>C
ENST00000682517.1:n.1102G>C
ENST00000682652.1:n.1331G>C
ENST00000682665.1:n.757G>C
ENST00000682691.1:n.757G>C
ENST00000682791.1:c.273G>C	ENSP00000507312.1:p.Leu91=
ENST00000682811.1:c.360G>C	ENSP00000508196.1:p.Leu120=
ENST00000682883.1:n.663G>C
ENST00000682946.1:c.360G>C	ENSP00000506856.1:p.Leu120=
ENST00000683143.1:c.*65G>C	ENSP00000507168.1:n.*65G>C
ENST00000683373.1:n.562G>C
ENST00000683558.1:n.562G>C
ENST00000683567.1:n.587G>C
ENST00000683955.1:n.757G>C
ENST00000684142.1:c.*35G>C	ENSP00000508008.1:n.*35G>C
ENST00000684252.1:n.757G>C
ENST00000684255.1:c.*65G>C	ENSP00000507398.1:n.*65G>C
ENST00000684315.1:n.1093G>C
ENST00000684345.1:c.*35G>C	ENSP00000507163.1:n.*35G>C
ENST00000684499.1:c.*465G>C	ENSP00000506800.1:n.*465G>C
ENST00000684682.1:c.162-358G>C	ENSP00000507326.1:n.162-358G>C
XM_005271422.2:c.360G>C	XP_005271479.1:p.Leu120=
XM_005271422.3:c.360G>C	XP_005271479.1:p.Leu120=
XM_011542648.1:c.39G>C	XP_011540950.1:p.Leu13=
XM_011542648.2:c.39G>C	XP_011540950.1:p.Leu13=
XM_017017293.2:c.39G>C	XP_016872782.1:p.Leu13=
XM_017017294.2:c.360G>C	XP_016872783.1:p.Leu120=
XM_017017295.1:c.-20-358G>C	XP_016872784.1:n.-20-358G>C
XR_001747785.2:n.583G>C
XR_947801.1:n.796G>C
XR_947801.2:n.583G>C