Canonical Allele Identifier: CA356116503

Gene: DOK7

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.3492944A>T , CM000666.2:g.3492944A>T	GRCh38
NC_000004.11:g.3494671A>T , CM000666.1:g.3494671A>T	GRCh37
NC_000004.10:g.3464469A>T	NCBI36
NG_013072.2:g.34639A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_173660.5:c.958A>T MANE Select	NP_775931.3:p.Lys320Ter
ENST00000340083.6:c.958A>T MANE Select	ENSP00000344432.5:p.Lys320Ter
NM_001164673.1:c.*179A>T	NP_001158145.1:n.*179A>T
NM_001164673.2:c.*179A>T	NP_001158145.1:n.*179A>T
NM_001256896.1:c.28A>T	NP_001243825.1:p.Lys10Ter
NM_001256896.2:c.28A>T	NP_001243825.1:p.Lys10Ter
NM_001301071.1:c.958A>T	NP_001288000.1:p.Lys320Ter
NM_001301071.2:c.958A>T	NP_001288000.1:p.Lys320Ter
NM_001363811.1:c.526A>T	NP_001350740.1:p.Lys176Ter
NM_001363811.2:c.526A>T	NP_001350740.1:p.Lys176Ter
NM_173660.4:c.958A>T	NP_775931.3:p.Lys320Ter
ENST00000340083.5:c.958A>T	ENSP00000344432.5:p.Lys320Ter
ENST00000507039.5:c.*179A>T	ENSP00000423614.1:n.*179A>T
ENST00000512714.1:n.150A>T
ENST00000515886.5:n.726A>T
ENST00000643608.1:c.526A>T	ENSP00000495701.1:p.Lys176Ter
XM_011513435.1:c.958A>T	XP_011511737.1:p.Lys320Ter
XM_011513435.2:c.958A>T	XP_011511737.1:p.Lys320Ter
XM_011513436.1:c.958A>T	XP_011511738.1:p.Lys320Ter
XM_011513437.1:c.544A>T	XP_011511739.1:p.Lys182Ter
XM_011513437.2:c.544A>T	XP_011511739.1:p.Lys182Ter