Canonical Allele Identifier: CA373120500

Gene: TEK

Linked Data

• gnomAD v4: 9-27206692-A-T
• MyVariant Identifiers: chr9:g.27206690A>T (hg19) ; chr9:g.27206692A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.27206692A>T , CM000671.2:g.27206692A>T	GRCh38
NC_000009.11:g.27206690A>T , CM000671.1:g.27206690A>T	GRCh37
NC_000009.10:g.27196690A>T	NCBI36
NG_011828.1:g.102544A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380036.10:c.2475A>T MANE Select	ENSP00000369375.4:p.Lys825Asn
ENST00000380036.8:c.2475A>T	ENSP00000369375.4:p.Lys825Asn
ENST00000406359.8:c.2346A>T	ENSP00000383977.4:p.Lys782Asn
ENST00000519097.5:c.2031A>T	ENSP00000430686.1:p.Lys677Asn
ENST00000615002.4:c.*976A>T	ENSP00000480251.1:n.*976A>T
NM_000459.4:c.2475A>T	NP_000450.2:p.Lys825Asn
NM_001290077.1:c.2346A>T	NP_001277006.1:p.Lys782Asn
NM_001290078.1:c.2031A>T	NP_001277007.1:p.Lys677Asn
XM_005251561.1:c.2472A>T	XP_005251618.1:p.Lys824Asn
XM_005251563.1:c.2343A>T	XP_005251620.1:p.Lys781Asn
XM_005251561.2:c.2472A>T	XP_005251618.1:p.Lys824Asn
XM_005251563.2:c.2343A>T	XP_005251620.1:p.Lys781Asn
NM_000459.5:c.2475A>T MANE Select	NP_000450.3:p.Lys825Asn
NM_001375475.1:c.2472A>T	NP_001362404.1:p.Lys824Asn
NM_001375476.1:c.2343A>T	NP_001362405.1:p.Lys781Asn