Canonical Allele Identifier: CA373125734

Gene: TEK

Linked Data

• dbSNP Id: rs1824035935
• gnomAD v3: 9-27173321-G-C
• gnomAD v4: 9-27173321-G-C
• MyVariant Identifiers: chr9:g.27173319G>C (hg19) ; chr9:g.27173321G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.27173321G>C , CM000671.2:g.27173321G>C	GRCh38
NC_000009.11:g.27173319G>C , CM000671.1:g.27173319G>C	GRCh37
NC_000009.10:g.27163319G>C	NCBI36
NG_011828.1:g.69173G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380036.10:c.860G>C MANE Select	ENSP00000369375.4:p.Cys287Ser
ENST00000380036.8:c.860G>C	ENSP00000369375.4:p.Cys287Ser
ENST00000406359.8:c.860G>C	ENSP00000383977.4:p.Cys287Ser
ENST00000519080.1:c.419G>C	ENSP00000428337.1:p.Cys140Ser
ENST00000519097.5:c.548G>C	ENSP00000430686.1:p.Cys183Ser
ENST00000615002.4:c.860G>C	ENSP00000480251.1:p.Cys287Ser
NM_000459.4:c.860G>C	NP_000450.2:p.Cys287Ser
NM_001290077.1:c.860G>C	NP_001277006.1:p.Cys287Ser
NM_001290078.1:c.548G>C	NP_001277007.1:p.Cys183Ser
XM_005251561.1:c.860G>C	XP_005251618.1:p.Cys287Ser
XM_005251563.1:c.860G>C	XP_005251620.1:p.Cys287Ser
XM_005251561.2:c.860G>C	XP_005251618.1:p.Cys287Ser
XM_005251563.2:c.860G>C	XP_005251620.1:p.Cys287Ser
NM_000459.5:c.860G>C MANE Select	NP_000450.3:p.Cys287Ser
NM_001375475.1:c.860G>C	NP_001362404.1:p.Cys287Ser
NM_001375476.1:c.860G>C	NP_001362405.1:p.Cys287Ser