Canonical Allele Identifier: CA356114281

Gene: DOK7

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.3476425G>C , CM000666.2:g.3476425G>C	GRCh38
NC_000004.11:g.3478152G>C , CM000666.1:g.3478152G>C	GRCh37
NC_000004.10:g.3447950G>C	NCBI36
NG_013072.2:g.18120G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_173660.5:c.415G>C MANE Select	NP_775931.3:p.Val139Leu
ENST00000340083.6:c.415G>C MANE Select	ENSP00000344432.5:p.Val139Leu
NM_001164673.1:c.415G>C	NP_001158145.1:p.Val139Leu
NM_001164673.2:c.415G>C	NP_001158145.1:p.Val139Leu
NM_001301071.1:c.415G>C	NP_001288000.1:p.Val139Leu
NM_001301071.2:c.415G>C	NP_001288000.1:p.Val139Leu
NM_001363811.1:c.101-9114G>C	NP_001350740.1:n.101-9114G>C
NM_001363811.2:c.101-9114G>C	NP_001350740.1:n.101-9114G>C
NM_173660.4:c.415G>C	NP_775931.3:p.Val139Leu
ENST00000340083.5:c.415G>C	ENSP00000344432.5:p.Val139Leu
ENST00000503688.5:n.166-9114G>C
ENST00000507039.5:c.415G>C	ENSP00000423614.1:p.Val139Leu
ENST00000511267.5:n.434G>C
ENST00000643608.1:c.101-9114G>C	ENSP00000495701.1:n.101-9114G>C
XM_011513435.1:c.415G>C	XP_011511737.1:p.Val139Leu
XM_011513435.2:c.415G>C	XP_011511737.1:p.Val139Leu
XM_011513436.1:c.415G>C	XP_011511738.1:p.Val139Leu
XM_011513437.1:c.12G>C	XP_011511739.1:p.Ser4=
XM_011513437.2:c.12G>C	XP_011511739.1:p.Ser4=