Canonical Allele Identifier: CA356116347

Gene: DOK7

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.3492905G>C , CM000666.2:g.3492905G>C	GRCh38
NC_000004.11:g.3494632G>C , CM000666.1:g.3494632G>C	GRCh37
NC_000004.10:g.3464430G>C	NCBI36
NG_013072.2:g.34600G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_173660.5:c.919G>C MANE Select	NP_775931.3:p.Ala307Pro
ENST00000340083.6:c.919G>C MANE Select	ENSP00000344432.5:p.Ala307Pro
NM_001164673.1:c.*140G>C	NP_001158145.1:n.*140G>C
NM_001164673.2:c.*140G>C	NP_001158145.1:n.*140G>C
NM_001256896.1:c.-12G>C	NP_001243825.1:n.-12G>C
NM_001256896.2:c.-12G>C	NP_001243825.1:n.-12G>C
NM_001301071.1:c.919G>C	NP_001288000.1:p.Ala307Pro
NM_001301071.2:c.919G>C	NP_001288000.1:p.Ala307Pro
NM_001363811.1:c.487G>C	NP_001350740.1:p.Ala163Pro
NM_001363811.2:c.487G>C	NP_001350740.1:p.Ala163Pro
NM_173660.4:c.919G>C	NP_775931.3:p.Ala307Pro
ENST00000340083.5:c.919G>C	ENSP00000344432.5:p.Ala307Pro
ENST00000507039.5:c.*140G>C	ENSP00000423614.1:n.*140G>C
ENST00000512714.1:n.111G>C
ENST00000515886.5:n.687G>C
ENST00000643608.1:c.487G>C	ENSP00000495701.1:p.Ala163Pro
XM_011513435.1:c.919G>C	XP_011511737.1:p.Ala307Pro
XM_011513435.2:c.919G>C	XP_011511737.1:p.Ala307Pro
XM_011513436.1:c.919G>C	XP_011511738.1:p.Ala307Pro
XM_011513437.1:c.505G>C	XP_011511739.1:p.Ala169Pro
XM_011513437.2:c.505G>C	XP_011511739.1:p.Ala169Pro