Canonical Allele Identifier: CA3184351
Gene: TERT HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.1260560G>A
GRCh37 chr5:g.1260675G>A
Revel Score:
ENST00000310581 (MANE Select) 0.191
ENST00000334602 0.191
gnomAD v2:
5:1260675 G / A
gnomAD v3:
5:1260560 G / A
gnomAD v4:
chr5-1260560-G-A
Joint Max Group AF 0.00018723 (AFR)
Genomes Max Group AF 0.00022166 (AFR)
Exomes Max Group AF 0.00007713 (AFR)
ClinVar RCV:
RCV002533382
RCV003228970
ClinVar Variation:
539208
dbSNP:
144697790
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1260560G>A , CM000667.2:g.1260560G>A GRCh38
NC_000005.9:g.1260675G>A , CM000667.1:g.1260675G>A GRCh37
NC_000005.8:g.1313675G>A NCBI36
NG_009265.1:g.39488C>T , LRG_343:g.39488C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000310581.10:c.2884C>T MANE Select ENSP00000309572.5:p.Arg962Cys
ENST00000656021.1:c.*2430C>T ENSP00000499759.1:n.*2430C>T
ENST00000667927.1:n.172C>T
ENST00000310581.9:c.2884C>T ENSP00000309572.5:p.Arg962Cys
ENST00000334602.10:c.2695C>T ENSP00000334346.6:p.Arg899Cys
ENST00000460137.6:c.2477C>T ENSP00000425003.1:n.2477C>T
ENST00000484238.6:n.1326C>T
NM_001193376.1:c.2695C>T NP_001180305.1:p.Arg899Cys
NM_198253.2:c.2884C>T , LRG_343t1:c.2884C>T NP_937983.2:p.Arg962Cys
XM_011514104.1:c.1354C>T XP_011512406.1:p.Arg452Cys
XM_011514105.1:c.1240C>T XP_011512407.1:p.Arg414Cys
XM_011514106.1:c.1240C>T XP_011512408.1:p.Arg414Cys
NR_149162.1:n.2571C>T
NR_149163.1:n.2535C>T
NM_001193376.2:c.2695C>T NP_001180305.1:p.Arg899Cys
NM_198253.3:c.2884C>T MANE Select NP_937983.2:p.Arg962Cys
NR_149162.2:n.2592C>T
NR_149163.2:n.2556C>T
NM_001193376.3:c.2695C>T NP_001180305.1:p.Arg899Cys
NR_149162.3:n.2592C>T
NR_149163.3:n.2556C>T
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