Canonical Allele Identifier: CA356115259

Gene: DOK7

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.3489681A>T , CM000666.2:g.3489681A>T	GRCh38
NC_000004.11:g.3491408A>T , CM000666.1:g.3491408A>T	GRCh37
NC_000004.10:g.3461206A>T	NCBI36
NG_013072.2:g.31376A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_173660.5:c.657A>T MANE Select	NP_775931.3:p.Pro219=
ENST00000340083.6:c.657A>T MANE Select	ENSP00000344432.5:p.Pro219=
NM_001164673.1:c.646A>T	NP_001158145.1:p.Lys216Ter
NM_001164673.2:c.646A>T	NP_001158145.1:p.Lys216Ter
NM_001256896.1:c.-274A>T	NP_001243825.1:n.-274A>T
NM_001256896.2:c.-274A>T	NP_001243825.1:n.-274A>T
NM_001301071.1:c.657A>T	NP_001288000.1:p.Pro219=
NM_001301071.2:c.657A>T	NP_001288000.1:p.Pro219=
NM_001363811.1:c.225A>T	NP_001350740.1:p.Pro75=
NM_001363811.2:c.225A>T	NP_001350740.1:p.Pro75=
NM_173660.4:c.657A>T	NP_775931.3:p.Pro219=
ENST00000340083.5:c.657A>T	ENSP00000344432.5:p.Pro219=
ENST00000503688.5:n.290A>T
ENST00000507039.5:c.646A>T	ENSP00000423614.1:p.Lys216Ter
ENST00000513995.1:n.315A>T
ENST00000515886.5:n.425A>T
ENST00000643608.1:c.225A>T	ENSP00000495701.1:p.Pro75=
XM_011513435.1:c.657A>T	XP_011511737.1:p.Pro219=
XM_011513435.2:c.657A>T	XP_011511737.1:p.Pro219=
XM_011513436.1:c.657A>T	XP_011511738.1:p.Pro219=
XM_011513437.1:c.243A>T	XP_011511739.1:p.Pro81=
XM_011513437.2:c.243A>T	XP_011511739.1:p.Pro81=