Canonical Allele Identifier: CA5016037

Gene: TEK

Linked Data

• ClinVar Variation Id: 1986336
• ClinVar RCV Id: RCV002786107
• dbSNP Id: rs781677642
• ExAC: 9:27173339 A / C
• gnomAD v2: 9-27173339-A-C
• gnomAD v3: 9-27173341-A-C
• gnomAD v4: 9-27173341-A-C
• MyVariant Identifiers: chr9:g.27173339A>C (hg19) ; chr9:g.27173341A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.27173341A>C , CM000671.2:g.27173341A>C	GRCh38
NC_000009.11:g.27173339A>C , CM000671.1:g.27173339A>C	GRCh37
NC_000009.10:g.27163339A>C	NCBI36
NG_011828.1:g.69193A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380036.10:c.880A>C MANE Select	ENSP00000369375.4:p.Lys294Gln
ENST00000380036.8:c.880A>C	ENSP00000369375.4:p.Lys294Gln
ENST00000406359.8:c.880A>C	ENSP00000383977.4:p.Lys294Gln
ENST00000519080.1:c.439A>C	ENSP00000428337.1:p.Lys147Gln
ENST00000519097.5:c.568A>C	ENSP00000430686.1:p.Lys190Gln
ENST00000615002.4:c.880A>C	ENSP00000480251.1:p.Lys294Gln
NM_000459.4:c.880A>C	NP_000450.2:p.Lys294Gln
NM_001290077.1:c.880A>C	NP_001277006.1:p.Lys294Gln
NM_001290078.1:c.568A>C	NP_001277007.1:p.Lys190Gln
XM_005251561.1:c.880A>C	XP_005251618.1:p.Lys294Gln
XM_005251563.1:c.880A>C	XP_005251620.1:p.Lys294Gln
XM_005251561.2:c.880A>C	XP_005251618.1:p.Lys294Gln
XM_005251563.2:c.880A>C	XP_005251620.1:p.Lys294Gln
NM_000459.5:c.880A>C MANE Select	NP_000450.3:p.Lys294Gln
NM_001375475.1:c.880A>C	NP_001362404.1:p.Lys294Gln
NM_001375476.1:c.880A>C	NP_001362405.1:p.Lys294Gln