Canonical Allele Identifier: CA6314454

Gene: DPAGT1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119097164G>A , CM000673.2:g.119097164G>A	GRCh38
NC_000011.9:g.118967874G>A , CM000673.1:g.118967874G>A	GRCh37
NC_000011.8:g.118473084G>A	NCBI36
NG_008918.1:g.9912C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001382.4:c.1139C>T MANE Select	NP_001373.2:p.Thr380Ile
ENST00000354202.9:c.1139C>T MANE Select	ENSP00000346142.4:p.Thr380Ile
NM_001382.3:c.1139C>T	NP_001373.2:p.Thr380Ile
ENST00000354202.8:c.1139C>T	ENSP00000346142.4:p.Thr380Ile
ENST00000392834.7:c.*844C>T	ENSP00000376579.3:n.*844C>T
ENST00000409993.6:c.1139C>T	ENSP00000386597.2:p.Thr380Ile
ENST00000414373.5:c.*608C>T	ENSP00000402019.1:n.*608C>T
ENST00000442480.1:c.871C>T	ENSP00000406591.1:n.871C>T
ENST00000445653.6:n.1363C>T
ENST00000461999.1:n.1472C>T
ENST00000481084.5:n.1768C>T
ENST00000524658.2:n.1344C>T
ENST00000530052.2:n.2350C>T
ENST00000636404.1:c.233-101C>T
ENST00000638850.1:c.662C>T
ENST00000639704.1:c.1046C>T	ENSP00000491336.1:p.Thr349Ile
ENST00000640102.1:c.*792C>T	ENSP00000492027.1:n.*792C>T
ENST00000640747.1:c.*814C>T	ENSP00000492730.1:n.*814C>T
ENST00000682191.1:n.1644C>T
ENST00000682192.1:n.1507C>T
ENST00000682232.1:c.*756C>T	ENSP00000507302.1:n.*756C>T
ENST00000682326.1:c.*109C>T	ENSP00000508129.1:n.*109C>T
ENST00000682404.1:n.2406C>T
ENST00000682517.1:n.2709C>T
ENST00000682652.1:n.2413C>T
ENST00000682665.1:n.2005C>T
ENST00000682691.1:n.2005C>T
ENST00000682791.1:c.1052C>T	ENSP00000507312.1:p.Thr351Ile
ENST00000682811.1:c.*190C>T	ENSP00000508196.1:n.*190C>T
ENST00000682883.1:n.1165C>T
ENST00000682946.1:c.*221C>T	ENSP00000506856.1:n.*221C>T
ENST00000683143.1:c.*844C>T	ENSP00000507168.1:n.*844C>T
ENST00000683373.1:n.1644C>T
ENST00000683558.1:n.1810C>T
ENST00000683567.1:n.1248C>T
ENST00000683955.1:n.1895C>T
ENST00000684142.1:c.*980C>T	ENSP00000508008.1:n.*980C>T
ENST00000684252.1:n.1702C>T
ENST00000684255.1:c.*1010C>T	ENSP00000507398.1:n.*1010C>T
ENST00000684315.1:n.1872C>T
ENST00000684345.1:c.*1283C>T	ENSP00000507163.1:n.*1283C>T
ENST00000684499.1:c.*1410C>T	ENSP00000506800.1:n.*1410C>T
ENST00000684682.1:c.*1036C>T	ENSP00000507326.1:n.*1036C>T
XM_005271422.2:c.1139C>T	XP_005271479.1:p.Thr380Ile
XM_005271422.3:c.1139C>T	XP_005271479.1:p.Thr380Ile
XM_011542648.1:c.818C>T	XP_011540950.1:p.Thr273Ile
XM_011542648.2:c.818C>T	XP_011540950.1:p.Thr273Ile
XM_017017293.2:c.818C>T	XP_016872782.1:p.Thr273Ile
XM_017017294.2:c.*387C>T	XP_016872783.1:n.*387C>T
XM_017017295.1:c.623C>T	XP_016872784.1:p.Thr208Ile
XR_001747785.2:n.1173C>T
XR_947801.1:n.1298C>T
XR_947801.2:n.1085C>T