Canonical Allele Identifier: CA401228233
Community Standard Title: NM_003258.5(TK1):c.524T>C (p.Ile175Thr)
Gene: TK1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.78174940A>G , CM000679.2:g.78174940A>G GRCh38
NC_000017.10:g.76171021A>G , CM000679.1:g.76171021A>G GRCh37
NC_000017.9:g.73682616A>G NCBI36
NG_051962.1:g.17265T>C

Transcript Alleles

HGVS Amino-acid Change
NM_003258.5:c.524T>C MANE Select NP_003249.3:p.Ile175Thr
ENST00000301634.12:c.524T>C MANE Select ENSP00000301634.6:p.Ile175Thr
NM_001346663.1:c.513+110T>C NP_001333592.1:n.513+110T>C
NM_001346663.2:c.513+110T>C NP_001333592.1:n.513+110T>C
NM_001363848.1:c.623T>C NP_001350777.1:p.Ile208Thr
NM_003258.4:c.524T>C NP_003249.3:p.Ile175Thr
ENST00000301634.11:c.524T>C ENSP00000301634.6:p.Ile175Thr
ENST00000586613.1:c.548T>C ENSP00000468278.1:p.Ile183Thr
ENST00000588734.5:c.623T>C ENSP00000468425.1:p.Ile208Thr
ENST00000590430.5:c.*265T>C ENSP00000467121.1:n.*265T>C
ENST00000590862.5:c.513+110T>C ENSP00000468556.1:n.513+110T>C