Canonical Allele Identifier: CA8277376

Gene: DPH1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.2041840G>A , CM000679.2:g.2041840G>A	GRCh38
NC_000017.10:g.1945134G>A , CM000679.1:g.1945134G>A	GRCh37
NC_000017.9:g.1891884G>A	NCBI36
NG_051946.1:g.16729G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001383.6:c.1300G>A MANE Select	NP_001374.4:p.Ala434Thr
ENST00000263083.12:c.1300G>A MANE Select	ENSP00000263083.7:p.Ala434Thr
NM_001346574.1:c.1252G>A	NP_001333503.1:p.Ala418Thr
NM_001346575.1:c.1219G>A	NP_001333504.1:p.Ala407Thr
NM_001346576.1:c.895G>A	NP_001333505.1:p.Ala299Thr
NM_001346576.2:c.895G>A	NP_001333505.1:p.Ala299Thr
NM_001383.3:c.1315G>A	NP_001374.3:p.Ala439Thr
NM_001383.4:c.1315G>A	NP_001374.3:p.Ala439Thr
NM_001383.5:c.1300G>A	NP_001374.4:p.Ala434Thr
NR_144474.1:n.1714G>A
NR_144474.2:n.1673G>A
NR_144475.1:n.1681G>A
NR_144475.2:n.1640G>A
NR_144476.1:n.1740G>A
NR_144476.2:n.1699G>A
ENST00000263083.10:c.1315G>A	ENSP00000263083.6:p.Ala439Thr
ENST00000263084.6:c.142G>A	ENSP00000477033.1:p.Ala48Thr
ENST00000263084.7:c.142G>A	ENSP00000477033.1:p.Ala48Thr
ENST00000570477.5:c.1075G>A	ENSP00000458726.1:p.Ala359Thr
ENST00000570477.6:c.1075G>A	ENSP00000458726.1:p.Ala359Thr
ENST00000570867.5:n.1410G>A
ENST00000570867.6:n.1410G>A
ENST00000571418.5:c.1278G>A
ENST00000571418.7:c.1267G>A	ENSP00000458838.2:p.Ala423Thr
ENST00000571710.5:c.429G>A
ENST00000571710.6:c.429G>A
ENST00000572214.5:n.812G>A
ENST00000572214.6:n.812G>A
ENST00000572248.1:n.414G>A
ENST00000572248.2:n.414G>A
ENST00000572684.1:n.1023G>A
ENST00000572684.2:n.1023G>A
ENST00000575162.1:c.307G>A	ENSP00000476598.1:p.Ala103Thr
ENST00000575162.2:c.307G>A	ENSP00000476598.1:p.Ala103Thr
ENST00000575667.5:c.1189G>A
ENST00000575667.6:c.1189G>A
ENST00000607788.1:c.294G>A
ENST00000607788.2:c.294G>A
ENST00000674200.2:c.1315G>A	ENSP00000501368.1:p.Ala439Thr