Canonical Allele Identifier: CA2829544

Gene: DOK7

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.3493466G>A , CM000666.2:g.3493466G>A	GRCh38
NC_000004.11:g.3495193G>A , CM000666.1:g.3495193G>A	GRCh37
NC_000004.10:g.3464991G>A	NCBI36
NG_013072.2:g.35161G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_173660.5:c.1480G>A MANE Select	NP_775931.3:p.Val494Ile
ENST00000340083.6:c.1480G>A MANE Select	ENSP00000344432.5:p.Val494Ile
NM_001164673.1:c.*701G>A	NP_001158145.1:n.*701G>A
NM_001164673.2:c.*701G>A	NP_001158145.1:n.*701G>A
NM_001256896.1:c.550G>A	NP_001243825.1:p.Val184Ile
NM_001256896.2:c.550G>A	NP_001243825.1:p.Val184Ile
NM_001301071.1:c.1480G>A	NP_001288000.1:p.Val494Ile
NM_001301071.2:c.1480G>A	NP_001288000.1:p.Val494Ile
NM_001363811.1:c.1048G>A	NP_001350740.1:p.Val350Ile
NM_001363811.2:c.1048G>A	NP_001350740.1:p.Val350Ile
NM_173660.4:c.1480G>A	NP_775931.3:p.Val494Ile
ENST00000340083.5:c.1480G>A	ENSP00000344432.5:p.Val494Ile
ENST00000507039.5:c.*701G>A	ENSP00000423614.1:n.*701G>A
ENST00000512714.1:n.672G>A
ENST00000515886.5:n.1248G>A
ENST00000643608.1:c.1048G>A	ENSP00000495701.1:p.Val350Ile
XM_011513435.1:c.1480G>A	XP_011511737.1:p.Val494Ile
XM_011513435.2:c.1480G>A	XP_011511737.1:p.Val494Ile
XM_011513436.1:c.1480G>A	XP_011511738.1:p.Val494Ile
XM_011513437.1:c.1066G>A	XP_011511739.1:p.Val356Ile
XM_011513437.2:c.1066G>A	XP_011511739.1:p.Val356Ile