Canonical Allele Identifier: CA373128222

Gene: TEK

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.27220146G>A , CM000671.2:g.27220146G>A	GRCh38
NC_000009.11:g.27220144G>A , CM000671.1:g.27220144G>A	GRCh37
NC_000009.10:g.27210144G>A	NCBI36
NG_011828.1:g.115998G>A

Transcript Alleles

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