Canonical Allele Identifier: CA373122691

Gene: TEK

Linked Data

• dbSNP Id: rs1587026477
• gnomAD v3: 9-27212718-C-G
• gnomAD v4: 9-27212718-C-G
• MyVariant Identifiers: chr9:g.27212716C>G (hg19) ; chr9:g.27212718C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.27212718C>G , CM000671.2:g.27212718C>G	GRCh38
NC_000009.11:g.27212716C>G , CM000671.1:g.27212716C>G	GRCh37
NC_000009.10:g.27202716C>G	NCBI36
NG_011828.1:g.108570C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380036.10:c.2698C>G MANE Select	ENSP00000369375.4:p.Leu900Val
ENST00000380036.8:c.2698C>G	ENSP00000369375.4:p.Leu900Val
ENST00000406359.8:c.2569C>G	ENSP00000383977.4:p.Leu857Val
ENST00000519097.5:c.2254C>G	ENSP00000430686.1:p.Leu752Val
ENST00000615002.4:c.*1199C>G	ENSP00000480251.1:n.*1199C>G
NM_000459.4:c.2698C>G	NP_000450.2:p.Leu900Val
NM_001290077.1:c.2569C>G	NP_001277006.1:p.Leu857Val
NM_001290078.1:c.2254C>G	NP_001277007.1:p.Leu752Val
XM_005251561.1:c.2695C>G	XP_005251618.1:p.Leu899Val
XM_005251563.1:c.2566C>G	XP_005251620.1:p.Leu856Val
XM_005251561.2:c.2695C>G	XP_005251618.1:p.Leu899Val
XM_005251563.2:c.2566C>G	XP_005251620.1:p.Leu856Val
NM_000459.5:c.2698C>G MANE Select	NP_000450.3:p.Leu900Val
NM_001375475.1:c.2695C>G	NP_001362404.1:p.Leu899Val
NM_001375476.1:c.2566C>G	NP_001362405.1:p.Leu856Val