Canonical Allele Identifier: CA359073209

Gene: TERT

Linked Data

• ClinVar Variation Id: 1695947
• ClinVar RCV Id: RCV002509798
• MyVariant Identifiers: chr5:g.1266612G>C (hg19) ; chr5:g.1266497G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1266497G>C , CM000667.2:g.1266497G>C	GRCh38
NC_000005.9:g.1266612G>C , CM000667.1:g.1266612G>C	GRCh37
NC_000005.8:g.1319612G>C	NCBI36
NG_009265.1:g.33551C>G , LRG_343:g.33551C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310581.10:c.2621C>G MANE Select	ENSP00000309572.5:p.Thr874Arg
ENST00000656021.1:c.*2167C>G	ENSP00000499759.1:n.*2167C>G
ENST00000310581.9:c.2621C>G	ENSP00000309572.5:p.Thr874Arg
ENST00000334602.10:c.2621C>G	ENSP00000334346.6:p.Thr874Arg
ENST00000460137.6:c.2403C>G	ENSP00000425003.1:n.2403C>G
ENST00000484238.6:n.1252C>G
ENST00000503656.1:n.28C>G
ENST00000508104.2:c.2439C>G	ENSP00000426042.2:n.2439C>G
NM_001193376.1:c.2621C>G	NP_001180305.1:p.Thr874Arg
NM_198253.2:c.2621C>G , LRG_343t1:c.2621C>G	NP_937983.2:p.Thr874Arg
XM_011514104.1:c.1091C>G	XP_011512406.1:p.Thr364Arg
XM_011514105.1:c.977C>G	XP_011512407.1:p.Thr326Arg
XM_011514106.1:c.977C>G	XP_011512408.1:p.Thr326Arg
NR_149162.1:n.2497C>G
NR_149163.1:n.2461C>G
NM_001193376.2:c.2621C>G	NP_001180305.1:p.Thr874Arg
NM_198253.3:c.2621C>G MANE Select	NP_937983.2:p.Thr874Arg
NR_149162.2:n.2518C>G
NR_149163.2:n.2482C>G
NM_001193376.3:c.2621C>G	NP_001180305.1:p.Thr874Arg
NR_149162.3:n.2518C>G
NR_149163.3:n.2482C>G