Canonical Allele Identifier: CA399196743
Gene: TAOK1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1300172
ClinVar RCV Id: RCV001731168
dbSNP Id: rs2153029597

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.29510931T>C , CM000679.2:g.29510931T>C GRCh38
NC_000017.10:g.27837949T>C , CM000679.1:g.27837949T>C GRCh37
NC_000017.9:g.24862075T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000261716.8:c.1643T>C MANE Select ENSP00000261716.3:p.Leu548Pro
ENST00000261716.7:c.1643T>C ENSP00000261716.3:p.Leu548Pro
ENST00000536202.1:c.1643T>C ENSP00000438819.1:p.Leu548Pro
ENST00000577583.1:n.1491T>C
NM_020791.2:c.1643T>C NP_065842.1:p.Leu548Pro
NM_025142.1:c.1643T>C NP_079418.1:p.Leu548Pro
XM_011525060.1:c.1643T>C XP_011523362.1:p.Leu548Pro
XM_011525060.2:c.1643T>C XP_011523362.1:p.Leu548Pro
NM_020791.4:c.1643T>C MANE Select NP_065842.1:p.Leu548Pro