Canonical Allele Identifier: CA359076350
Gene: TERT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1272234G>A , CM000667.2:g.1272234G>A GRCh38
NC_000005.9:g.1272349G>A , CM000667.1:g.1272349G>A GRCh37
NC_000005.8:g.1325349G>A NCBI36
NG_009265.1:g.27814C>T , LRG_343:g.27814C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000310581.10:c.2333C>T MANE Select ENSP00000309572.5:p.Ala778Val
ENST00000656021.1:c.*1879C>T ENSP00000499759.1:n.*1879C>T
ENST00000310581.9:c.2333C>T ENSP00000309572.5:p.Ala778Val
ENST00000334602.10:c.2333C>T ENSP00000334346.6:p.Ala778Val
ENST00000460137.6:c.2251-3601C>T ENSP00000425003.1:n.2251-3601C>T
ENST00000484238.6:n.1100-3601C>T
ENST00000508104.2:c.2287-3601C>T ENSP00000426042.2:n.2287-3601C>T
NM_001193376.1:c.2333C>T NP_001180305.1:p.Ala778Val
NM_198253.2:c.2333C>T , LRG_343t1:c.2333C>T NP_937983.2:p.Ala778Val
XM_011514104.1:c.803C>T XP_011512406.1:p.Ala268Val
XM_011514105.1:c.689C>T XP_011512407.1:p.Ala230Val
XM_011514106.1:c.689C>T XP_011512408.1:p.Ala230Val
NR_149162.1:n.2345-3601C>T
NR_149163.1:n.2309-3601C>T
NM_001193376.2:c.2333C>T NP_001180305.1:p.Ala778Val
NM_198253.3:c.2333C>T MANE Select NP_937983.2:p.Ala778Val
NR_149162.2:n.2366-3601C>T
NR_149163.2:n.2330-3601C>T
NM_001193376.3:c.2333C>T NP_001180305.1:p.Ala778Val
NR_149162.3:n.2366-3601C>T
NR_149163.3:n.2330-3601C>T