Canonical Allele Identifier: CA5016768

Gene: TEK

Linked Data

• ClinVar Variation Id: 366453
• ClinVar RCV Id: RCV003766105
• dbSNP Id: rs148623971
• ExAC: 9:27220155 C / G
• gnomAD v2: 9-27220155-C-G
• gnomAD v3: 9-27220157-C-G
• gnomAD v4: 9-27220157-C-G
• MyVariant Identifiers: chr9:g.27220155C>G (hg19) ; chr9:g.27220157C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.27220157C>G , CM000671.2:g.27220157C>G	GRCh38
NC_000009.11:g.27220155C>G , CM000671.1:g.27220155C>G	GRCh37
NC_000009.10:g.27210155C>G	NCBI36
NG_011828.1:g.116009C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000380036.10:c.3200+12C>G MANE Select	ENSP00000369375.4:n.3200+12C>G
ENST00000380036.8:c.3200+12C>G	ENSP00000369375.4:n.3200+12C>G
ENST00000406359.8:c.3071+12C>G	ENSP00000383977.4:n.3071+12C>G
ENST00000519097.5:c.2756+12C>G	ENSP00000430686.1:n.2756+12C>G
ENST00000615002.4:c.*1701+12C>G	ENSP00000480251.1:n.*1701+12C>G
NM_000459.4:c.3200+12C>G	NP_000450.2:n.3200+12C>G
NM_001290077.1:c.3071+12C>G	NP_001277006.1:n.3071+12C>G
NM_001290078.1:c.2756+12C>G	NP_001277007.1:n.2756+12C>G
XM_005251561.1:c.3197+12C>G	XP_005251618.1:n.3197+12C>G
XM_005251563.1:c.3068+12C>G	XP_005251620.1:n.3068+12C>G
XM_005251561.2:c.3197+12C>G	XP_005251618.1:n.3197+12C>G
XM_005251563.2:c.3068+12C>G	XP_005251620.1:n.3068+12C>G
NM_000459.5:c.3200+12C>G MANE Select	NP_000450.3:n.3200+12C>G
NM_001375475.1:c.3197+12C>G	NP_001362404.1:n.3197+12C>G
NM_001375476.1:c.3068+12C>G	NP_001362405.1:n.3068+12C>G