Canonical Allele Identifier: CA372763400

Gene: DOCK8

Linked Data

• MyVariant Identifiers: chr9:g.377158T>A (hg19) ; chr9:g.377158T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.377158T>A , CM000671.2:g.377158T>A	GRCh38
NC_000009.11:g.377158T>A , CM000671.1:g.377158T>A	GRCh37
NC_000009.10:g.367158T>A	NCBI36
NG_017007.1:g.167294T>A , LRG_196:g.167294T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382329.2:c.2183T>A	ENSP00000371766.2:p.Leu728Gln
ENST00000382331.6:n.884T>A
ENST00000483757.6:c.*1074T>A	ENSP00000417691.2:n.*1074T>A
ENST00000682260.1:n.2283T>A
ENST00000685949.1:n.1175T>A
ENST00000432829.7:c.2387T>A MANE Select	ENSP00000394888.3:p.Leu796Gln
ENST00000382329.1:c.788T>A	ENSP00000371766.1:p.Leu263Gln
ENST00000382331.5:c.293T>A	ENSP00000371768.1:p.Leu98Gln
ENST00000432829.6:c.2387T>A	ENSP00000394888.3:p.Leu796Gln
ENST00000453981.5:c.2183T>A	ENSP00000408464.2:p.Leu728Gln
ENST00000469391.5:c.2183T>A	ENSP00000419438.1:p.Leu728Gln
ENST00000483757.5:c.*1862T>A	ENSP00000417691.1:n.*1862T>A
ENST00000495184.5:n.4342T>A
NM_001190458.1:c.2183T>A	NP_001177387.1:p.Leu728Gln
NM_001193536.1:c.2183T>A	NP_001180465.1:p.Leu728Gln
NM_203447.3:c.2387T>A , LRG_196t1:c.2387T>A	NP_982272.2:p.Leu796Gln
XM_011518045.1:c.2183T>A	XP_011516347.1:p.Leu728Gln
XM_011518046.1:c.2249T>A	XP_011516348.1:p.Leu750Gln
XM_011518047.1:c.2183T>A	XP_011516349.1:p.Leu728Gln
XM_011518048.1:c.2183T>A	XP_011516350.1:p.Leu728Gln
XM_011518049.1:c.623T>A	XP_011516351.1:p.Leu208Gln
XM_011518045.3:c.2183T>A	XP_011516347.1:p.Leu728Gln
XM_011518046.2:c.2249T>A	XP_011516348.1:p.Leu750Gln
XM_011518047.3:c.2183T>A	XP_011516349.1:p.Leu728Gln
XM_011518048.2:c.2183T>A	XP_011516350.1:p.Leu728Gln
XM_011518049.2:c.623T>A	XP_011516351.1:p.Leu208Gln
XM_017015173.1:c.2183T>A	XP_016870662.1:p.Leu728Gln
XM_017015174.1:c.2249T>A	XP_016870663.1:p.Leu750Gln
NM_001190458.2:c.2183T>A	NP_001177387.1:p.Leu728Gln
NM_001193536.2:c.2183T>A	NP_001180465.1:p.Leu728Gln
NM_203447.4:c.2387T>A MANE Select	NP_982272.2:p.Leu796Gln