Canonical Allele Identifier: CA13117551

Gene: TEK

Linked Data

• ClinVar Variation Id: 1258472
• ClinVar RCV Id: RCV001671002
• dbSNP Id: rs41314569
• gnomAD v2: 9-27173429-T-C
• gnomAD v3: 9-27173431-T-C
• gnomAD v4: 9-27173431-T-C
• MyVariant Identifiers: chr9:g.27173429T>C (hg19) ; chr9:g.27173431T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.27173431T>C , CM000671.2:g.27173431T>C	GRCh38
NC_000009.11:g.27173429T>C , CM000671.1:g.27173429T>C	GRCh37
NC_000009.10:g.27163429T>C	NCBI36
NG_011828.1:g.69283T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380036.10:c.901+69T>C MANE Select	ENSP00000369375.4:n.901+69T>C
ENST00000380036.8:c.901+69T>C	ENSP00000369375.4:n.901+69T>C
ENST00000406359.8:c.901+69T>C	ENSP00000383977.4:n.901+69T>C
ENST00000519080.1:c.460+69T>C	ENSP00000428337.1:n.460+69T>C
ENST00000519097.5:c.589+69T>C	ENSP00000430686.1:n.589+69T>C
ENST00000615002.4:c.901+69T>C	ENSP00000480251.1:n.901+69T>C
NM_000459.4:c.901+69T>C	NP_000450.2:n.901+69T>C
NM_001290077.1:c.901+69T>C	NP_001277006.1:n.901+69T>C
NM_001290078.1:c.589+69T>C	NP_001277007.1:n.589+69T>C
XM_005251561.1:c.901+69T>C	XP_005251618.1:n.901+69T>C
XM_005251563.1:c.901+69T>C	XP_005251620.1:n.901+69T>C
XM_005251561.2:c.901+69T>C	XP_005251618.1:n.901+69T>C
XM_005251563.2:c.901+69T>C	XP_005251620.1:n.901+69T>C
NM_000459.5:c.901+69T>C MANE Select	NP_000450.3:n.901+69T>C
NM_001375475.1:c.901+69T>C	NP_001362404.1:n.901+69T>C
NM_001375476.1:c.901+69T>C	NP_001362405.1:n.901+69T>C