Canonical Allele Identifier: CA8277206

Gene: DPH1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.2040544G>T , CM000679.2:g.2040544G>T	GRCh38
NC_000017.10:g.1943838G>T , CM000679.1:g.1943838G>T	GRCh37
NC_000017.9:g.1890588G>T	NCBI36
NG_051946.1:g.15433G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001383.6:c.946G>T MANE Select	NP_001374.4:p.Val316Leu
ENST00000263083.12:c.946G>T MANE Select	ENSP00000263083.7:p.Val316Leu
NM_001346574.1:c.898G>T	NP_001333503.1:p.Val300Leu
NM_001346575.1:c.865G>T	NP_001333504.1:p.Val289Leu
NM_001346576.1:c.541G>T	NP_001333505.1:p.Val181Leu
NM_001346576.2:c.541G>T	NP_001333505.1:p.Val181Leu
NM_001383.3:c.961G>T	NP_001374.3:p.Val321Leu
NM_001383.4:c.961G>T	NP_001374.3:p.Val321Leu
NM_001383.5:c.946G>T	NP_001374.4:p.Val316Leu
NR_144474.1:n.1360G>T
NR_144474.2:n.1319G>T
NR_144475.1:n.1327G>T
NR_144475.2:n.1286G>T
NR_144476.1:n.1386G>T
NR_144476.2:n.1345G>T
ENST00000263083.10:c.961G>T	ENSP00000263083.6:p.Val321Leu
ENST00000570477.5:c.721G>T	ENSP00000458726.1:p.Val241Leu
ENST00000570477.6:c.721G>T	ENSP00000458726.1:p.Val241Leu
ENST00000570867.5:n.1056G>T
ENST00000570867.6:n.1056G>T
ENST00000571418.5:c.924G>T
ENST00000571418.7:c.913G>T	ENSP00000458838.2:p.Val305Leu
ENST00000571710.5:c.75G>T
ENST00000571710.6:c.75G>T
ENST00000572214.5:n.458G>T
ENST00000572214.6:n.458G>T
ENST00000575667.5:c.835G>T
ENST00000575667.6:c.835G>T
ENST00000674200.2:c.961G>T	ENSP00000501368.1:p.Val321Leu