Canonical Allele Identifier: CA359085226
Gene: TERT HGNC NCBI

Linked Data

ClinVar Variation Id: 1718202
ClinVar RCV Id: RCV003097935

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1293372A>C , CM000667.2:g.1293372A>C GRCh38
NC_000005.9:g.1293487A>C , CM000667.1:g.1293487A>C GRCh37
NC_000005.8:g.1346487A>C NCBI36
NG_009265.1:g.6676T>G , LRG_343:g.6676T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000310581.10:c.1514T>G MANE Select ENSP00000309572.5:p.Leu505Arg
ENST00000656021.1:c.1514T>G ENSP00000499759.1:p.Leu505Arg
ENST00000310581.9:c.1514T>G ENSP00000309572.5:p.Leu505Arg
ENST00000334602.10:c.1514T>G ENSP00000334346.6:p.Leu505Arg
ENST00000460137.6:c.1514T>G ENSP00000425003.1:p.Leu505Arg
ENST00000508104.2:c.1514T>G ENSP00000426042.2:p.Leu505Arg
NM_001193376.1:c.1514T>G NP_001180305.1:p.Leu505Arg
NM_198253.2:c.1514T>G , LRG_343t1:c.1514T>G NP_937983.2:p.Leu505Arg
NR_149162.1:n.1572T>G
NR_149163.1:n.1572T>G
NM_001193376.2:c.1514T>G NP_001180305.1:p.Leu505Arg
NM_198253.3:c.1514T>G MANE Select NP_937983.2:p.Leu505Arg
NR_149162.2:n.1593T>G
NR_149163.2:n.1593T>G
NM_001193376.3:c.1514T>G NP_001180305.1:p.Leu505Arg
NR_149162.3:n.1593T>G
NR_149163.3:n.1593T>G