Canonical Allele Identifier: CA8277372

Gene: DPH1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.2041826G>C , CM000679.2:g.2041826G>C	GRCh38
NC_000017.10:g.1945120G>C , CM000679.1:g.1945120G>C	GRCh37
NC_000017.9:g.1891870G>C	NCBI36
NG_051946.1:g.16715G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263083.12:c.1286G>C MANE Select	ENSP00000263083.7:p.Arg429Thr
ENST00000263084.7:c.128G>C	ENSP00000477033.1:p.Arg43Thr
ENST00000570477.6:c.1061G>C	ENSP00000458726.1:p.Arg354Thr
ENST00000570867.6:n.1396G>C
ENST00000571418.7:c.1253G>C	ENSP00000458838.2:p.Arg418Thr
ENST00000571710.6:c.415G>C
ENST00000572214.6:n.798G>C
ENST00000572248.2:n.400G>C
ENST00000572684.2:n.1009G>C
ENST00000575162.2:c.293G>C	ENSP00000476598.1:p.Arg98Thr
ENST00000575667.6:c.1175G>C
ENST00000607788.2:c.280G>C
ENST00000674200.2:c.1301G>C	ENSP00000501368.1:p.Arg434Thr
ENST00000263083.10:c.1301G>C	ENSP00000263083.6:p.Arg434Thr
ENST00000263084.6:c.128G>C	ENSP00000477033.1:p.Arg43Thr
ENST00000570477.5:c.1061G>C	ENSP00000458726.1:p.Arg354Thr
ENST00000570867.5:n.1396G>C
ENST00000571418.5:c.1264G>C
ENST00000571710.5:c.415G>C
ENST00000572214.5:n.798G>C
ENST00000572248.1:n.400G>C
ENST00000572684.1:n.1009G>C
ENST00000575162.1:c.293G>C	ENSP00000476598.1:p.Arg98Thr
ENST00000575667.5:c.1175G>C
ENST00000607788.1:c.280G>C
NM_001383.3:c.1301G>C	NP_001374.3:p.Arg434Thr
NM_001346574.1:c.1238G>C	NP_001333503.1:p.Arg413Thr
NM_001346575.1:c.1205G>C	NP_001333504.1:p.Arg402Thr
NM_001346576.1:c.881G>C	NP_001333505.1:p.Arg294Thr
NM_001383.4:c.1301G>C	NP_001374.3:p.Arg434Thr
NR_144474.1:n.1700G>C
NR_144475.1:n.1667G>C
NR_144476.1:n.1726G>C
NM_001383.5:c.1286G>C	NP_001374.4:p.Arg429Thr
NM_001346576.2:c.881G>C	NP_001333505.1:p.Arg294Thr
NM_001383.6:c.1286G>C MANE Select	NP_001374.4:p.Arg429Thr
NR_144474.2:n.1659G>C
NR_144475.2:n.1626G>C
NR_144476.2:n.1685G>C