Canonical Allele Identifier: CA5016120

Gene: TEK

Linked Data

• dbSNP Id: rs779939521
• ExAC: 9:27183498 C / T
• gnomAD v2: 9-27183498-C-T
• gnomAD v3: 9-27183500-C-T
• gnomAD v4: 9-27183500-C-T
• MyVariant Identifiers: chr9:g.27183498C>T (hg19) ; chr9:g.27183500C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.27183500C>T , CM000671.2:g.27183500C>T	GRCh38
NC_000009.11:g.27183498C>T , CM000671.1:g.27183498C>T	GRCh37
NC_000009.10:g.27173498C>T	NCBI36
NG_011828.1:g.79352C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380036.10:c.1072C>T MANE Select	ENSP00000369375.4:p.His358Tyr
ENST00000380036.8:c.1072C>T	ENSP00000369375.4:p.His358Tyr
ENST00000406359.8:c.943C>T	ENSP00000383977.4:p.His315Tyr
ENST00000519080.1:c.502C>T	ENSP00000428337.1:p.His168Tyr
ENST00000519097.5:c.631C>T	ENSP00000430686.1:p.His211Tyr
ENST00000615002.4:c.943C>T	ENSP00000480251.1:p.His315Tyr
NM_000459.4:c.1072C>T	NP_000450.2:p.His358Tyr
NM_001290077.1:c.943C>T	NP_001277006.1:p.His315Tyr
NM_001290078.1:c.631C>T	NP_001277007.1:p.His211Tyr
XM_005251561.1:c.1072C>T	XP_005251618.1:p.His358Tyr
XM_005251563.1:c.943C>T	XP_005251620.1:p.His315Tyr
XM_005251561.2:c.1072C>T	XP_005251618.1:p.His358Tyr
XM_005251563.2:c.943C>T	XP_005251620.1:p.His315Tyr
NM_000459.5:c.1072C>T MANE Select	NP_000450.3:p.His358Tyr
NM_001375475.1:c.1072C>T	NP_001362404.1:p.His358Tyr
NM_001375476.1:c.943C>T	NP_001362405.1:p.His315Tyr