Canonical Allele Identifier: CA399196590

Gene: TAOK1

Linked Data

• dbSNP Id: rs2031708051
• gnomAD v3: 17-29510870-G-T
• gnomAD v4: 17-29510870-G-T
• MyVariant Identifiers: chr17:g.27837888G>T (hg19) ; chr17:g.29510870G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.29510870G>T , CM000679.2:g.29510870G>T	GRCh38
NC_000017.10:g.27837888G>T , CM000679.1:g.27837888G>T	GRCh37
NC_000017.9:g.24862014G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000261716.8:c.1582G>T MANE Select	ENSP00000261716.3:p.Val528Leu
ENST00000261716.7:c.1582G>T	ENSP00000261716.3:p.Val528Leu
ENST00000536202.1:c.1582G>T	ENSP00000438819.1:p.Val528Leu
ENST00000577583.1:n.1430G>T
NM_020791.2:c.1582G>T	NP_065842.1:p.Val528Leu
NM_025142.1:c.1582G>T	NP_079418.1:p.Val528Leu
XM_011525060.1:c.1582G>T	XP_011523362.1:p.Val528Leu
XM_011525060.2:c.1582G>T	XP_011523362.1:p.Val528Leu
NM_020791.4:c.1582G>T MANE Select	NP_065842.1:p.Val528Leu