Canonical Allele Identifier: CA289198984

Gene: TAOK1

Linked Data

• dbSNP Id: rs978854156
• gnomAD v4: 17-29530454-C-T
• MyVariant Identifiers: chr17:g.27857472C>T (hg19) ; chr17:g.29530454C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.29530454C>T , CM000679.2:g.29530454C>T	GRCh38
NC_000017.10:g.27857472C>T , CM000679.1:g.27857472C>T	GRCh37
NC_000017.9:g.24881598C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261716.8:c.2196C>T MANE Select	ENSP00000261716.3:p.Ile732=
ENST00000261716.7:c.2196C>T	ENSP00000261716.3:p.Ile732=
ENST00000536202.1:c.1752C>T	ENSP00000438819.1:p.Ile584=
ENST00000578653.1:n.280C>T
NM_020791.2:c.2196C>T	NP_065842.1:p.Ile732=
NM_025142.1:c.1752C>T	NP_079418.1:p.Ile584=
XM_011525060.1:c.2196C>T	XP_011523362.1:p.Ile732=
XM_011525060.2:c.2196C>T	XP_011523362.1:p.Ile732=
NM_020791.4:c.2196C>T MANE Select	NP_065842.1:p.Ile732=