Canonical Allele Identifier: CA2829444

Gene: DOK7

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.3493264C>T , CM000666.2:g.3493264C>T	GRCh38
NC_000004.11:g.3494991C>T , CM000666.1:g.3494991C>T	GRCh37
NC_000004.10:g.3464789C>T	NCBI36
NG_013072.2:g.34959C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340083.6:c.1278C>T MANE Select	ENSP00000344432.5:p.Pro426=
ENST00000643608.1:c.846C>T	ENSP00000495701.1:p.Pro282=
ENST00000340083.5:c.1278C>T	ENSP00000344432.5:p.Pro426=
ENST00000507039.5:c.*499C>T	ENSP00000423614.1:n.*499C>T
ENST00000512714.1:n.470C>T
ENST00000515886.5:n.1046C>T
NM_001164673.1:c.*499C>T	NP_001158145.1:n.*499C>T
NM_001256896.1:c.348C>T	NP_001243825.1:p.Pro116=
NM_001301071.1:c.1278C>T	NP_001288000.1:p.Pro426=
NM_173660.4:c.1278C>T	NP_775931.3:p.Pro426=
XM_011513435.1:c.1278C>T	XP_011511737.1:p.Pro426=
XM_011513436.1:c.1278C>T	XP_011511738.1:p.Pro426=
XM_011513437.1:c.864C>T	XP_011511739.1:p.Pro288=
NM_001363811.1:c.846C>T	NP_001350740.1:p.Pro282=
XM_011513435.2:c.1278C>T	XP_011511737.1:p.Pro426=
XM_011513437.2:c.864C>T	XP_011511739.1:p.Pro288=
NM_173660.5:c.1278C>T MANE Select	NP_775931.3:p.Pro426=
NM_001164673.2:c.*499C>T	NP_001158145.1:n.*499C>T
NM_001301071.2:c.1278C>T	NP_001288000.1:p.Pro426=
NM_001363811.2:c.846C>T	NP_001350740.1:p.Pro282=
NM_001256896.2:c.348C>T	NP_001243825.1:p.Pro116=