Canonical Allele Identifier: CA372763373

Gene: DOCK8

Linked Data

• MyVariant Identifiers: chr9:g.377145C>G (hg19) ; chr9:g.377145C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.377145C>G , CM000671.2:g.377145C>G	GRCh38
NC_000009.11:g.377145C>G , CM000671.1:g.377145C>G	GRCh37
NC_000009.10:g.367145C>G	NCBI36
NG_017007.1:g.167281C>G , LRG_196:g.167281C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382329.2:c.2170C>G	ENSP00000371766.2:p.Leu724Val
ENST00000382331.6:n.871C>G
ENST00000483757.6:c.*1061C>G	ENSP00000417691.2:n.*1061C>G
ENST00000682260.1:n.2270C>G
ENST00000685949.1:n.1162C>G
ENST00000432829.7:c.2374C>G MANE Select	ENSP00000394888.3:p.Leu792Val
ENST00000382329.1:c.775C>G	ENSP00000371766.1:p.Leu259Val
ENST00000382331.5:c.280C>G	ENSP00000371768.1:p.Leu94Val
ENST00000432829.6:c.2374C>G	ENSP00000394888.3:p.Leu792Val
ENST00000453981.5:c.2170C>G	ENSP00000408464.2:p.Leu724Val
ENST00000469391.5:c.2170C>G	ENSP00000419438.1:p.Leu724Val
ENST00000483757.5:c.*1849C>G	ENSP00000417691.1:n.*1849C>G
ENST00000495184.5:n.4329C>G
NM_001190458.1:c.2170C>G	NP_001177387.1:p.Leu724Val
NM_001193536.1:c.2170C>G	NP_001180465.1:p.Leu724Val
NM_203447.3:c.2374C>G , LRG_196t1:c.2374C>G	NP_982272.2:p.Leu792Val
XM_011518045.1:c.2170C>G	XP_011516347.1:p.Leu724Val
XM_011518046.1:c.2236C>G	XP_011516348.1:p.Leu746Val
XM_011518047.1:c.2170C>G	XP_011516349.1:p.Leu724Val
XM_011518048.1:c.2170C>G	XP_011516350.1:p.Leu724Val
XM_011518049.1:c.610C>G	XP_011516351.1:p.Leu204Val
XM_011518045.3:c.2170C>G	XP_011516347.1:p.Leu724Val
XM_011518046.2:c.2236C>G	XP_011516348.1:p.Leu746Val
XM_011518047.3:c.2170C>G	XP_011516349.1:p.Leu724Val
XM_011518048.2:c.2170C>G	XP_011516350.1:p.Leu724Val
XM_011518049.2:c.610C>G	XP_011516351.1:p.Leu204Val
XM_017015173.1:c.2170C>G	XP_016870662.1:p.Leu724Val
XM_017015174.1:c.2236C>G	XP_016870663.1:p.Leu746Val
NM_001190458.2:c.2170C>G	NP_001177387.1:p.Leu724Val
NM_001193536.2:c.2170C>G	NP_001180465.1:p.Leu724Val
NM_203447.4:c.2374C>G MANE Select	NP_982272.2:p.Leu792Val