Canonical Allele Identifier: CA372763093

Gene: DOCK8

Linked Data

• COSMIC: COSM1700774 ; COSM1700775
• MyVariant Identifiers: chr9:g.377013T>A (hg19) ; chr9:g.377013T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.377013T>A , CM000671.2:g.377013T>A	GRCh38
NC_000009.11:g.377013T>A , CM000671.1:g.377013T>A	GRCh37
NC_000009.10:g.367013T>A	NCBI36
NG_017007.1:g.167149T>A , LRG_196:g.167149T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382329.2:c.2038T>A	ENSP00000371766.2:p.Ser680Thr
ENST00000382331.6:n.739T>A
ENST00000483757.6:c.*929T>A	ENSP00000417691.2:n.*929T>A
ENST00000682260.1:n.2138T>A
ENST00000685949.1:n.1030T>A
ENST00000432829.7:c.2242T>A MANE Select	ENSP00000394888.3:p.Ser748Thr
ENST00000382329.1:c.643T>A	ENSP00000371766.1:p.Ser215Thr
ENST00000382331.5:c.148T>A	ENSP00000371768.1:p.Ser50Thr
ENST00000432829.6:c.2242T>A	ENSP00000394888.3:p.Ser748Thr
ENST00000453981.5:c.2038T>A	ENSP00000408464.2:p.Ser680Thr
ENST00000469391.5:c.2038T>A	ENSP00000419438.1:p.Ser680Thr
ENST00000483757.5:c.*1717T>A	ENSP00000417691.1:n.*1717T>A
ENST00000495184.5:n.4197T>A
NM_001190458.1:c.2038T>A	NP_001177387.1:p.Ser680Thr
NM_001193536.1:c.2038T>A	NP_001180465.1:p.Ser680Thr
NM_203447.3:c.2242T>A , LRG_196t1:c.2242T>A	NP_982272.2:p.Ser748Thr
XM_011518045.1:c.2038T>A	XP_011516347.1:p.Ser680Thr
XM_011518046.1:c.2104T>A	XP_011516348.1:p.Ser702Thr
XM_011518047.1:c.2038T>A	XP_011516349.1:p.Ser680Thr
XM_011518048.1:c.2038T>A	XP_011516350.1:p.Ser680Thr
XM_011518049.1:c.478T>A	XP_011516351.1:p.Ser160Thr
XM_011518045.3:c.2038T>A	XP_011516347.1:p.Ser680Thr
XM_011518046.2:c.2104T>A	XP_011516348.1:p.Ser702Thr
XM_011518047.3:c.2038T>A	XP_011516349.1:p.Ser680Thr
XM_011518048.2:c.2038T>A	XP_011516350.1:p.Ser680Thr
XM_011518049.2:c.478T>A	XP_011516351.1:p.Ser160Thr
XM_017015173.1:c.2038T>A	XP_016870662.1:p.Ser680Thr
XM_017015174.1:c.2104T>A	XP_016870663.1:p.Ser702Thr
NM_001190458.2:c.2038T>A	NP_001177387.1:p.Ser680Thr
NM_001193536.2:c.2038T>A	NP_001180465.1:p.Ser680Thr
NM_203447.4:c.2242T>A MANE Select	NP_982272.2:p.Ser748Thr