Canonical Allele Identifier: CA373126059

Gene: TEK

Linked Data

• ClinVar Variation Id: 3236691
• ClinVar RCV Id: RCV004556151
• MyVariant Identifiers: chr9:g.27217705G>A (hg19) ; chr9:g.27217707G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.27217707G>A , CM000671.2:g.27217707G>A	GRCh38
NC_000009.11:g.27217705G>A , CM000671.1:g.27217705G>A	GRCh37
NC_000009.10:g.27207705G>A	NCBI36
NG_011828.1:g.113559G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380036.10:c.3011G>A MANE Select	ENSP00000369375.4:p.Trp1004Ter
ENST00000380036.8:c.3011G>A	ENSP00000369375.4:p.Trp1004Ter
ENST00000406359.8:c.2882G>A	ENSP00000383977.4:p.Trp961Ter
ENST00000519097.5:c.2567G>A	ENSP00000430686.1:p.Trp856Ter
ENST00000615002.4:c.*1512G>A	ENSP00000480251.1:n.*1512G>A
NM_000459.4:c.3011G>A	NP_000450.2:p.Trp1004Ter
NM_001290077.1:c.2882G>A	NP_001277006.1:p.Trp961Ter
NM_001290078.1:c.2567G>A	NP_001277007.1:p.Trp856Ter
XM_005251561.1:c.3008G>A	XP_005251618.1:p.Trp1003Ter
XM_005251563.1:c.2879G>A	XP_005251620.1:p.Trp960Ter
XM_005251561.2:c.3008G>A	XP_005251618.1:p.Trp1003Ter
XM_005251563.2:c.2879G>A	XP_005251620.1:p.Trp960Ter
NM_000459.5:c.3011G>A MANE Select	NP_000450.3:p.Trp1004Ter
NM_001375475.1:c.3008G>A	NP_001362404.1:p.Trp1003Ter
NM_001375476.1:c.2879G>A	NP_001362405.1:p.Trp960Ter