Canonical Allele Identifier: CA398917210

Gene: TAOK1

Linked Data

• ClinVar Variation Id: 2436952
• ClinVar RCV Id: RCV003140872
• MyVariant Identifiers: chr17:g.27861205C>G (hg19) ; chr17:g.29534187C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.29534187C>G , CM000679.2:g.29534187C>G	GRCh38
NC_000017.10:g.27861205C>G , CM000679.1:g.27861205C>G	GRCh37
NC_000017.9:g.24885331C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261716.8:c.2431C>G MANE Select	ENSP00000261716.3:p.Leu811Val
ENST00000261716.7:c.2431C>G	ENSP00000261716.3:p.Leu811Val
ENST00000536202.1:c.1987C>G	ENSP00000438819.1:p.Leu663Val
NM_020791.2:c.2431C>G	NP_065842.1:p.Leu811Val
NM_025142.1:c.1987C>G	NP_079418.1:p.Leu663Val
XM_011525060.1:c.2431C>G	XP_011523362.1:p.Leu811Val
XM_011525060.2:c.2431C>G	XP_011523362.1:p.Leu811Val
NM_020791.4:c.2431C>G MANE Select	NP_065842.1:p.Leu811Val