Canonical Allele Identifier: CA3184998
Gene: TERT HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.1294622C>G
GRCh37 chr5:g.1294737C>G
gnomAD v2:
5:1294737 C / G
gnomAD v4:
chr5-1294622-C-G
Joint Max Group AF 0.00000554 (AMR)
Exomes Max Group AF 0.00000745 (AMR)
ClinVar Allele:
428349
ClinVar RCV:
RCV000502707
RCV002527298
RCV003159633
ClinVar Variation:
436981
dbSNP:
768398792
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1294622C>G , CM000667.2:g.1294622C>G GRCh38
NC_000005.9:g.1294737C>G , CM000667.1:g.1294737C>G GRCh37
NC_000005.8:g.1347737C>G NCBI36
NG_009265.1:g.5426G>C , LRG_343:g.5426G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000310581.10:c.264G>C MANE Select ENSP00000309572.5:p.Leu88=
ENST00000656021.1:c.264G>C ENSP00000499759.1:p.Leu88=
ENST00000310581.9:c.264G>C ENSP00000309572.5:p.Leu88=
ENST00000334602.10:c.264G>C ENSP00000334346.6:p.Leu88=
ENST00000460137.6:c.264G>C ENSP00000425003.1:p.Leu88=
ENST00000508104.2:c.264G>C ENSP00000426042.2:p.Leu88=
ENST00000522877.1:n.344G>C
NM_001193376.1:c.264G>C NP_001180305.1:p.Leu88=
NM_198253.2:c.264G>C , LRG_343t1:c.264G>C NP_937983.2:p.Leu88=
NR_149162.1:n.322G>C
NR_149163.1:n.322G>C
NM_001193376.2:c.264G>C NP_001180305.1:p.Leu88=
NM_198253.3:c.264G>C MANE Select NP_937983.2:p.Leu88=
NR_149162.2:n.343G>C
NR_149163.2:n.343G>C
NM_001193376.3:c.264G>C NP_001180305.1:p.Leu88=
NR_149162.3:n.343G>C
NR_149163.3:n.343G>C
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