Canonical Allele Identifier: CA2689643884

Gene: TEK

Linked Data

• gnomAD v4: 9-27212678-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.27212678T>G , CM000671.2:g.27212678T>G	GRCh38
NC_000009.11:g.27212676T>G , CM000671.1:g.27212676T>G	GRCh37
NC_000009.10:g.27202676T>G	NCBI36
NG_011828.1:g.108530T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000380036.10:c.2687-29T>G MANE Select	ENSP00000369375.4:n.2687-29T>G
ENST00000380036.8:c.2687-29T>G	ENSP00000369375.4:n.2687-29T>G
ENST00000406359.8:c.2558-29T>G	ENSP00000383977.4:n.2558-29T>G
ENST00000519097.5:c.2243-29T>G	ENSP00000430686.1:n.2243-29T>G
ENST00000615002.4:c.*1188-29T>G	ENSP00000480251.1:n.*1188-29T>G
NM_000459.4:c.2687-29T>G	NP_000450.2:n.2687-29T>G
NM_001290077.1:c.2558-29T>G	NP_001277006.1:n.2558-29T>G
NM_001290078.1:c.2243-29T>G	NP_001277007.1:n.2243-29T>G
XM_005251561.1:c.2684-29T>G	XP_005251618.1:n.2684-29T>G
XM_005251563.1:c.2555-29T>G	XP_005251620.1:n.2555-29T>G
XM_005251561.2:c.2684-29T>G	XP_005251618.1:n.2684-29T>G
XM_005251563.2:c.2555-29T>G	XP_005251620.1:n.2555-29T>G
NM_000459.5:c.2687-29T>G MANE Select	NP_000450.3:n.2687-29T>G
NM_001375475.1:c.2684-29T>G	NP_001362404.1:n.2684-29T>G
NM_001375476.1:c.2555-29T>G	NP_001362405.1:n.2555-29T>G