Canonical Allele Identifier: CA382911718

Gene: DPAGT1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119098433A>G , CM000673.2:g.119098433A>G	GRCh38
NC_000011.9:g.118969143A>G , CM000673.1:g.118969143A>G	GRCh37
NC_000011.8:g.118474353A>G	NCBI36
NG_008918.1:g.8643T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001382.4:c.698T>C MANE Select	NP_001373.2:p.Phe233Ser
ENST00000354202.9:c.698T>C MANE Select	ENSP00000346142.4:p.Phe233Ser
NM_001382.3:c.698T>C	NP_001373.2:p.Phe233Ser
ENST00000354202.8:c.698T>C	ENSP00000346142.4:p.Phe233Ser
ENST00000392834.7:c.*403T>C	ENSP00000376579.3:n.*403T>C
ENST00000409993.6:c.698T>C	ENSP00000386597.2:p.Phe233Ser
ENST00000414373.5:c.*444T>C	ENSP00000402019.1:n.*444T>C
ENST00000442480.1:c.548T>C	ENSP00000406591.1:p.Phe183Ser
ENST00000445653.6:n.874T>C
ENST00000461999.1:n.203T>C
ENST00000481084.5:n.1327T>C
ENST00000524658.1:n.3T>C
ENST00000524658.2:n.737T>C
ENST00000525456.5:n.701T>C
ENST00000530052.1:n.596T>C
ENST00000530052.2:n.1440T>C
ENST00000533687.1:n.710T>C
ENST00000636404.1:c.202T>C
ENST00000638850.1:c.202T>C
ENST00000639704.1:c.605T>C	ENSP00000491336.1:p.Phe202Ser
ENST00000640102.1:c.*351T>C	ENSP00000492027.1:n.*351T>C
ENST00000640747.1:c.*373T>C	ENSP00000492730.1:n.*373T>C
ENST00000682191.1:n.900T>C
ENST00000682192.1:n.900T>C
ENST00000682232.1:c.*403T>C	ENSP00000507302.1:n.*403T>C
ENST00000682326.1:c.698T>C	ENSP00000508129.1:p.Phe233Ser
ENST00000682404.1:n.1440T>C
ENST00000682517.1:n.1440T>C
ENST00000682652.1:n.1669T>C
ENST00000682665.1:n.1095T>C
ENST00000682691.1:n.1095T>C
ENST00000682791.1:c.611T>C	ENSP00000507312.1:p.Phe204Ser
ENST00000682811.1:c.698T>C	ENSP00000508196.1:p.Phe233Ser
ENST00000682883.1:n.1001T>C
ENST00000682946.1:c.698T>C	ENSP00000506856.1:p.Phe233Ser
ENST00000683143.1:c.*403T>C	ENSP00000507168.1:n.*403T>C
ENST00000683373.1:n.900T>C
ENST00000683558.1:n.900T>C
ENST00000683567.1:n.925T>C
ENST00000683955.1:n.1095T>C
ENST00000684142.1:c.*373T>C	ENSP00000508008.1:n.*373T>C
ENST00000684252.1:n.1095T>C
ENST00000684255.1:c.*403T>C	ENSP00000507398.1:n.*403T>C
ENST00000684315.1:n.1431T>C
ENST00000684345.1:c.*373T>C	ENSP00000507163.1:n.*373T>C
ENST00000684499.1:c.*803T>C	ENSP00000506800.1:n.*803T>C
ENST00000684682.1:c.*126T>C	ENSP00000507326.1:n.*126T>C
XM_005271422.2:c.698T>C	XP_005271479.1:p.Phe233Ser
XM_005271422.3:c.698T>C	XP_005271479.1:p.Phe233Ser
XM_011542648.1:c.377T>C	XP_011540950.1:p.Phe126Ser
XM_011542648.2:c.377T>C	XP_011540950.1:p.Phe126Ser
XM_017017293.2:c.377T>C	XP_016872782.1:p.Phe126Ser
XM_017017294.2:c.698T>C	XP_016872783.1:p.Phe233Ser
XM_017017295.1:c.182T>C	XP_016872784.1:p.Phe61Ser
XR_001747785.2:n.921T>C
XR_947801.1:n.1134T>C
XR_947801.2:n.921T>C