Canonical Allele Identifier: CA382914362

Gene: DPAGT1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119100331C>G , CM000673.2:g.119100331C>G	GRCh38
NC_000011.9:g.118971041C>G , CM000673.1:g.118971041C>G	GRCh37
NC_000011.8:g.118476251C>G	NCBI36
NG_008918.1:g.6745G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001382.4:c.574G>C MANE Select	NP_001373.2:p.Gly192Arg
ENST00000354202.9:c.574G>C MANE Select	ENSP00000346142.4:p.Gly192Arg
NM_001382.3:c.574G>C	NP_001373.2:p.Gly192Arg
ENST00000354202.8:c.574G>C	ENSP00000346142.4:p.Gly192Arg
ENST00000392834.7:c.*279G>C	ENSP00000376579.3:n.*279G>C
ENST00000409993.6:c.574G>C	ENSP00000386597.2:p.Gly192Arg
ENST00000414373.5:c.*320G>C	ENSP00000402019.1:n.*320G>C
ENST00000442480.1:c.424G>C	ENSP00000406591.1:p.Gly142Arg
ENST00000445653.6:n.750G>C
ENST00000461999.1:n.79G>C
ENST00000481084.5:n.1203G>C
ENST00000525456.5:n.577G>C
ENST00000530052.1:n.472G>C
ENST00000530052.2:n.1316G>C
ENST00000533687.1:n.586G>C
ENST00000636404.1:c.78G>C
ENST00000638850.1:c.78G>C
ENST00000639704.1:c.481G>C	ENSP00000491336.1:p.Gly161Arg
ENST00000640102.1:c.*227G>C	ENSP00000492027.1:n.*227G>C
ENST00000640747.1:c.*249G>C	ENSP00000492730.1:n.*249G>C
ENST00000682191.1:n.776G>C
ENST00000682192.1:n.776G>C
ENST00000682232.1:c.*279G>C	ENSP00000507302.1:n.*279G>C
ENST00000682326.1:c.574G>C	ENSP00000508129.1:p.Gly192Arg
ENST00000682404.1:n.1316G>C
ENST00000682517.1:n.1316G>C
ENST00000682652.1:n.1545G>C
ENST00000682665.1:n.971G>C
ENST00000682691.1:n.971G>C
ENST00000682791.1:c.487G>C	ENSP00000507312.1:p.Gly163Arg
ENST00000682811.1:c.574G>C	ENSP00000508196.1:p.Gly192Arg
ENST00000682883.1:n.877G>C
ENST00000682946.1:c.574G>C	ENSP00000506856.1:p.Gly192Arg
ENST00000683143.1:c.*279G>C	ENSP00000507168.1:n.*279G>C
ENST00000683373.1:n.776G>C
ENST00000683558.1:n.776G>C
ENST00000683567.1:n.801G>C
ENST00000683955.1:n.971G>C
ENST00000684142.1:c.*249G>C	ENSP00000508008.1:n.*249G>C
ENST00000684252.1:n.971G>C
ENST00000684255.1:c.*279G>C	ENSP00000507398.1:n.*279G>C
ENST00000684315.1:n.1307G>C
ENST00000684345.1:c.*249G>C	ENSP00000507163.1:n.*249G>C
ENST00000684499.1:c.*679G>C	ENSP00000506800.1:n.*679G>C
ENST00000684682.1:c.*2G>C	ENSP00000507326.1:n.*2G>C
XM_005271422.2:c.574G>C	XP_005271479.1:p.Gly192Arg
XM_005271422.3:c.574G>C	XP_005271479.1:p.Gly192Arg
XM_011542648.1:c.253G>C	XP_011540950.1:p.Gly85Arg
XM_011542648.2:c.253G>C	XP_011540950.1:p.Gly85Arg
XM_017017293.2:c.253G>C	XP_016872782.1:p.Gly85Arg
XM_017017294.2:c.574G>C	XP_016872783.1:p.Gly192Arg
XM_017017295.1:c.58G>C	XP_016872784.1:p.Gly20Arg
XR_001747785.2:n.797G>C
XR_947801.1:n.1010G>C
XR_947801.2:n.797G>C