Canonical Allele Identifier: CA343442
Gene: TERT HGNC NCBI

Linked Data

ClinVar Variation Id: 39111
dbSNP Id: rs149566858

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000310581.10:c.2177C>T MANE Select ENSP00000309572.5:p.Thr726Met
ENST00000656021.1:c.*1723C>T ENSP00000499759.1:p.=
ENST00000310581.9:c.2177C>T ENSP00000309572.5:p.Thr726Met
ENST00000334602.10:n.2177C>T ENSP00000334346.6:p.Thr726Met
ENST00000460137.6:n.2141C>T ENSP00000425003.1:p.Thr714Met
ENST00000484238.6:n.990C>T
ENST00000508104.2:n.2177C>T ENSP00000426042.2:p.Thr726Met
NM_001193376.1:c.2177C>T NP_001180305.1:p.Thr726Met
NM_198253.2:c.2177C>T , LRG_343t1:c.2177C>T NP_937983.2:p.Thr726Met
XM_011514104.1:c.647C>T XP_011512406.1:p.Thr216Met
XM_011514105.1:c.533C>T XP_011512407.1:p.Thr178Met
XM_011514106.1:c.533C>T XP_011512408.1:p.Thr178Met
NR_149162.1:n.2235C>T
NR_149163.1:n.2199C>T
NM_001193376.2:c.2177C>T NP_001180305.1:p.Thr726Met
NM_198253.3:c.2177C>T MANE Select NP_937983.2:p.Thr726Met
NR_149162.2:n.2256C>T
NR_149163.2:n.2220C>T
NM_001193376.3:c.2177C>T NP_001180305.1:p.Thr726Met
NR_149162.3:n.2256C>T
NR_149163.3:n.2220C>T