Canonical Allele Identifier: CA5016113

Gene: TEK

Linked Data

• ClinVar Variation Id: 1284626
• ClinVar RCV Id: RCV001700881 ; RCV001838813 ; RCV001838812 ; RCV002073283
• dbSNP Id: rs682632
• ExAC: 9:27183463 A / C
• gnomAD v2: 9-27183463-A-C
• gnomAD v3: 9-27183465-A-C
• gnomAD v4: 9-27183465-A-C
• MyVariant Identifiers: chr9:g.27183463A>C (hg19) ; chr9:g.27183465A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.27183465A>C , CM000671.2:g.27183465A>C	GRCh38
NC_000009.11:g.27183463A>C , CM000671.1:g.27183463A>C	GRCh37
NC_000009.10:g.27173463A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380036.10:c.1037A>C MANE Select	ENSP00000369375.4:p.Gln346Pro
ENST00000380036.8:c.1037A>C	ENSP00000369375.4:p.Gln346Pro
ENST00000406359.8:c.908A>C	ENSP00000383977.4:p.Gln303Pro
ENST00000519080.1:c.467A>C	ENSP00000428337.1:p.Gln156Pro
ENST00000519097.5:c.596A>C	ENSP00000430686.1:p.Gln199Pro
ENST00000615002.4:c.908A>C	ENSP00000480251.1:p.Gln303Pro
XM_005251561.1:c.1037A>C	XP_005251618.1:p.Gln346Pro
XM_005251563.1:c.908A>C	XP_005251620.1:p.Gln303Pro
XM_005251561.2:c.1037A>C	XP_005251618.1:p.Gln346Pro
XM_005251563.2:c.908A>C	XP_005251620.1:p.Gln303Pro
NM_000459.5:c.1037A>C MANE Select	NP_000450.3:p.Gln346Pro
NM_001375475.1:c.1037A>C	NP_001362404.1:p.Gln346Pro
NM_001375476.1:c.908A>C	NP_001362405.1:p.Gln303Pro