Canonical Allele Identifier: CA359079553

Gene: TERT

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1278750G>T , CM000667.2:g.1278750G>T	GRCh38
NC_000005.9:g.1278865G>T , CM000667.1:g.1278865G>T	GRCh37
NC_000005.8:g.1331865G>T	NCBI36
NG_009265.1:g.21298C>A , LRG_343:g.21298C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310581.10:c.2177C>A MANE Select	ENSP00000309572.5:p.Thr726Lys
ENST00000656021.1:c.*1723C>A	ENSP00000499759.1:n.*1723C>A
ENST00000310581.9:c.2177C>A	ENSP00000309572.5:p.Thr726Lys
ENST00000334602.10:c.2177C>A	ENSP00000334346.6:p.Thr726Lys
ENST00000460137.6:c.2141C>A	ENSP00000425003.1:p.Thr714Lys
ENST00000484238.6:n.990C>A
ENST00000508104.2:c.2177C>A	ENSP00000426042.2:p.Thr726Lys
NM_001193376.1:c.2177C>A	NP_001180305.1:p.Thr726Lys
NM_198253.2:c.2177C>A , LRG_343t1:c.2177C>A	NP_937983.2:p.Thr726Lys
XM_011514104.1:c.647C>A	XP_011512406.1:p.Thr216Lys
XM_011514105.1:c.533C>A	XP_011512407.1:p.Thr178Lys
XM_011514106.1:c.533C>A	XP_011512408.1:p.Thr178Lys
NR_149162.1:n.2235C>A
NR_149163.1:n.2199C>A
NM_001193376.2:c.2177C>A	NP_001180305.1:p.Thr726Lys
NM_198253.3:c.2177C>A MANE Select	NP_937983.2:p.Thr726Lys
NR_149162.2:n.2256C>A
NR_149163.2:n.2220C>A
NM_001193376.3:c.2177C>A	NP_001180305.1:p.Thr726Lys
NR_149162.3:n.2256C>A
NR_149163.3:n.2220C>A