Canonical Allele Identifier: CA340902

Gene: TEK

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.27212710A>C , CM000671.2:g.27212710A>C	GRCh38
NC_000009.11:g.27212708A>C , CM000671.1:g.27212708A>C	GRCh37
NC_000009.10:g.27202708A>C	NCBI36
NG_011828.1:g.108562A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380036.10:c.2690A>C MANE Select	ENSP00000369375.4:p.Tyr897Ser
ENST00000380036.8:c.2690A>C	ENSP00000369375.4:p.Tyr897Ser
ENST00000406359.8:c.2561A>C	ENSP00000383977.4:p.Tyr854Ser
ENST00000519097.5:c.2246A>C	ENSP00000430686.1:p.Tyr749Ser
ENST00000615002.4:c.*1191A>C	ENSP00000480251.1:n.*1191A>C
NM_000459.4:c.2690A>C	NP_000450.2:p.Tyr897Ser
NM_001290077.1:c.2561A>C	NP_001277006.1:p.Tyr854Ser
NM_001290078.1:c.2246A>C	NP_001277007.1:p.Tyr749Ser
XM_005251561.1:c.2687A>C	XP_005251618.1:p.Tyr896Ser
XM_005251563.1:c.2558A>C	XP_005251620.1:p.Tyr853Ser
XM_005251561.2:c.2687A>C	XP_005251618.1:p.Tyr896Ser
XM_005251563.2:c.2558A>C	XP_005251620.1:p.Tyr853Ser
NM_000459.5:c.2690A>C MANE Select	NP_000450.3:p.Tyr897Ser
NM_001375475.1:c.2687A>C	NP_001362404.1:p.Tyr896Ser
NM_001375476.1:c.2558A>C	NP_001362405.1:p.Tyr853Ser