Canonical Allele Identifier: CA8277101

Gene: DPH1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.2039800C>T , CM000679.2:g.2039800C>T	GRCh38
NC_000017.10:g.1943094C>T , CM000679.1:g.1943094C>T	GRCh37
NC_000017.9:g.1889844C>T	NCBI36
NG_051946.1:g.14689C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001383.6:c.726C>T MANE Select	NP_001374.4:p.Ala242=
ENST00000263083.12:c.726C>T MANE Select	ENSP00000263083.7:p.Ala242=
NM_001346574.1:c.741C>T	NP_001333503.1:p.Ala247=
NM_001346575.1:c.708C>T	NP_001333504.1:p.Ala236=
NM_001346576.1:c.321C>T	NP_001333505.1:p.Ala107=
NM_001346576.2:c.321C>T	NP_001333505.1:p.Ala107=
NM_001383.3:c.741C>T	NP_001374.3:p.Ala247=
NM_001383.4:c.741C>T	NP_001374.3:p.Ala247=
NM_001383.5:c.726C>T	NP_001374.4:p.Ala242=
NR_144474.1:n.1140C>T
NR_144474.2:n.1099C>T
NR_144475.1:n.1107C>T
NR_144475.2:n.1066C>T
NR_144476.1:n.1166C>T
NR_144476.2:n.1125C>T
ENST00000263083.10:c.741C>T	ENSP00000263083.6:p.Ala247=
ENST00000570477.5:c.501C>T	ENSP00000458726.1:p.Ala167=
ENST00000570477.6:c.501C>T	ENSP00000458726.1:p.Ala167=
ENST00000570867.5:n.836C>T
ENST00000570867.6:n.836C>T
ENST00000571418.5:c.704C>T
ENST00000571418.7:c.693C>T	ENSP00000458838.2:p.Ala231=
ENST00000572214.5:n.108C>T
ENST00000572214.6:n.108C>T
ENST00000575667.5:c.615C>T
ENST00000575667.6:c.615C>T
ENST00000575998.1:n.248C>T
ENST00000674200.2:c.741C>T	ENSP00000501368.1:p.Ala247=