Canonical Allele Identifier: CA373116298

Gene: TEK

Linked Data

• ClinVar Variation Id: 2570605
• ClinVar RCV Id: RCV003246690
• gnomAD v4: 9-27202972-A-G
• MyVariant Identifiers: chr9:g.27202970A>G (hg19) ; chr9:g.27202972A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.27202972A>G , CM000671.2:g.27202972A>G	GRCh38
NC_000009.11:g.27202970A>G , CM000671.1:g.27202970A>G	GRCh37
NC_000009.10:g.27192970A>G	NCBI36
NG_011828.1:g.98824A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380036.10:c.2062A>G MANE Select	ENSP00000369375.4:p.Lys688Glu
ENST00000380036.8:c.2062A>G	ENSP00000369375.4:p.Lys688Glu
ENST00000406359.8:c.1933A>G	ENSP00000383977.4:p.Lys645Glu
ENST00000519097.5:c.1621A>G	ENSP00000430686.1:p.Lys541Glu
ENST00000615002.4:c.*563A>G	ENSP00000480251.1:n.*563A>G
NM_000459.4:c.2062A>G	NP_000450.2:p.Lys688Glu
NM_001290077.1:c.1933A>G	NP_001277006.1:p.Lys645Glu
NM_001290078.1:c.1621A>G	NP_001277007.1:p.Lys541Glu
XM_005251561.1:c.2062A>G	XP_005251618.1:p.Lys688Glu
XM_005251563.1:c.1933A>G	XP_005251620.1:p.Lys645Glu
XM_005251561.2:c.2062A>G	XP_005251618.1:p.Lys688Glu
XM_005251563.2:c.1933A>G	XP_005251620.1:p.Lys645Glu
NM_000459.5:c.2062A>G MANE Select	NP_000450.3:p.Lys688Glu
NM_001375475.1:c.2062A>G	NP_001362404.1:p.Lys688Glu
NM_001375476.1:c.1933A>G	NP_001362405.1:p.Lys645Glu