Canonical Allele Identifier: CA373129827

Gene: TEK

Linked Data

• gnomAD v4: 9-27183483-T-G
• MyVariant Identifiers: chr9:g.27183481T>G (hg19) ; chr9:g.27183483T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.27183483T>G , CM000671.2:g.27183483T>G	GRCh38
NC_000009.11:g.27183481T>G , CM000671.1:g.27183481T>G	GRCh37
NC_000009.10:g.27173481T>G	NCBI36
NG_011828.1:g.79335T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380036.10:c.1055T>G MANE Select	ENSP00000369375.4:p.Ile352Arg
ENST00000380036.8:c.1055T>G	ENSP00000369375.4:p.Ile352Arg
ENST00000406359.8:c.926T>G	ENSP00000383977.4:p.Ile309Arg
ENST00000519080.1:c.485T>G	ENSP00000428337.1:p.Ile162Arg
ENST00000519097.5:c.614T>G	ENSP00000430686.1:p.Ile205Arg
ENST00000615002.4:c.926T>G	ENSP00000480251.1:p.Ile309Arg
NM_000459.4:c.1055T>G	NP_000450.2:p.Ile352Arg
NM_001290077.1:c.926T>G	NP_001277006.1:p.Ile309Arg
NM_001290078.1:c.614T>G	NP_001277007.1:p.Ile205Arg
XM_005251561.1:c.1055T>G	XP_005251618.1:p.Ile352Arg
XM_005251563.1:c.926T>G	XP_005251620.1:p.Ile309Arg
XM_005251561.2:c.1055T>G	XP_005251618.1:p.Ile352Arg
XM_005251563.2:c.926T>G	XP_005251620.1:p.Ile309Arg
NM_000459.5:c.1055T>G MANE Select	NP_000450.3:p.Ile352Arg
NM_001375475.1:c.1055T>G	NP_001362404.1:p.Ile352Arg
NM_001375476.1:c.926T>G	NP_001362405.1:p.Ile309Arg