Canonical Allele Identifier: CA6314644

Gene: DPAGT1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119100765G>A , CM000673.2:g.119100765G>A	GRCh38
NC_000011.9:g.118971475G>A , CM000673.1:g.118971475G>A	GRCh37
NC_000011.8:g.118476685G>A	NCBI36
NG_008918.1:g.6311C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001382.4:c.361C>T MANE Select	NP_001373.2:p.Arg121Cys
ENST00000354202.9:c.361C>T MANE Select	ENSP00000346142.4:p.Arg121Cys
NM_001382.3:c.361C>T	NP_001373.2:p.Arg121Cys
ENST00000354202.8:c.361C>T	ENSP00000346142.4:p.Arg121Cys
ENST00000392834.7:c.*66C>T	ENSP00000376579.3:n.*66C>T
ENST00000409993.6:c.361C>T	ENSP00000386597.2:p.Arg121Cys
ENST00000414373.5:c.*107C>T	ENSP00000402019.1:n.*107C>T
ENST00000442480.1:c.211C>T	ENSP00000406591.1:p.Arg71Cys
ENST00000445653.5:n.447C>T
ENST00000445653.6:n.537C>T
ENST00000460183.1:n.922C>T
ENST00000481084.5:n.1125+253C>T
ENST00000525456.5:n.364C>T
ENST00000530052.1:n.259C>T
ENST00000530052.2:n.1103C>T
ENST00000533687.1:n.152C>T
ENST00000639704.1:c.283-15C>T	ENSP00000491336.1:n.283-15C>T
ENST00000640102.1:c.*14C>T	ENSP00000492027.1:n.*14C>T
ENST00000640747.1:c.*36C>T	ENSP00000492730.1:n.*36C>T
ENST00000682191.1:n.563C>T
ENST00000682192.1:n.563C>T
ENST00000682232.1:c.*66C>T	ENSP00000507302.1:n.*66C>T
ENST00000682326.1:c.361C>T	ENSP00000508129.1:p.Arg121Cys
ENST00000682404.1:n.1103C>T
ENST00000682517.1:n.1103C>T
ENST00000682652.1:n.1332C>T
ENST00000682665.1:n.758C>T
ENST00000682691.1:n.758C>T
ENST00000682791.1:c.274C>T	ENSP00000507312.1:p.Arg92Cys
ENST00000682811.1:c.361C>T	ENSP00000508196.1:p.Arg121Cys
ENST00000682883.1:n.664C>T
ENST00000682946.1:c.361C>T	ENSP00000506856.1:p.Arg121Cys
ENST00000683143.1:c.*66C>T	ENSP00000507168.1:n.*66C>T
ENST00000683373.1:n.563C>T
ENST00000683558.1:n.563C>T
ENST00000683567.1:n.588C>T
ENST00000683955.1:n.758C>T
ENST00000684142.1:c.*36C>T	ENSP00000508008.1:n.*36C>T
ENST00000684252.1:n.758C>T
ENST00000684255.1:c.*66C>T	ENSP00000507398.1:n.*66C>T
ENST00000684315.1:n.1094C>T
ENST00000684345.1:c.*36C>T	ENSP00000507163.1:n.*36C>T
ENST00000684499.1:c.*466C>T	ENSP00000506800.1:n.*466C>T
ENST00000684682.1:c.162-357C>T	ENSP00000507326.1:n.162-357C>T
XM_005271422.2:c.361C>T	XP_005271479.1:p.Arg121Cys
XM_005271422.3:c.361C>T	XP_005271479.1:p.Arg121Cys
XM_011542648.1:c.40C>T	XP_011540950.1:p.Arg14Cys
XM_011542648.2:c.40C>T	XP_011540950.1:p.Arg14Cys
XM_017017293.2:c.40C>T	XP_016872782.1:p.Arg14Cys
XM_017017294.2:c.361C>T	XP_016872783.1:p.Arg121Cys
XM_017017295.1:c.-20-357C>T	XP_016872784.1:n.-20-357C>T
XR_001747785.2:n.584C>T
XR_947801.1:n.797C>T
XR_947801.2:n.584C>T