Canonical Allele Identifier: CA443005633

Gene: TERT

Linked Data

• ClinVar Variation Id: 1086457
• ClinVar RCV Id: RCV002553407
• dbSNP Id: rs1469467957
• gnomAD v4: 5-1294804-T-C
• MyVariant Identifiers: chr5:g.1294919T>C (hg19) ; chr5:g.1294804T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1294804T>C , CM000667.2:g.1294804T>C	GRCh38
NC_000005.9:g.1294919T>C , CM000667.1:g.1294919T>C	GRCh37
NC_000005.8:g.1347919T>C	NCBI36
NG_009265.1:g.5244A>G , LRG_343:g.5244A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310581.10:c.186A>G MANE Select	ENSP00000309572.5:p.Ala62=
ENST00000656021.1:c.186A>G	ENSP00000499759.1:p.Ala62=
ENST00000310581.9:c.186A>G	ENSP00000309572.5:p.Ala62=
ENST00000334602.10:c.186A>G	ENSP00000334346.6:p.Ala62=
ENST00000460137.6:c.186A>G	ENSP00000425003.1:p.Ala62=
ENST00000508104.2:c.186A>G	ENSP00000426042.2:p.Ala62=
ENST00000522877.1:n.266A>G
NM_001193376.1:c.186A>G	NP_001180305.1:p.Ala62=
NM_198253.2:c.186A>G , LRG_343t1:c.186A>G	NP_937983.2:p.Ala62=
NR_149162.1:n.244A>G
NR_149163.1:n.244A>G
NM_001193376.2:c.186A>G	NP_001180305.1:p.Ala62=
NM_198253.3:c.186A>G MANE Select	NP_937983.2:p.Ala62=
NR_149162.2:n.265A>G
NR_149163.2:n.265A>G
NM_001193376.3:c.186A>G	NP_001180305.1:p.Ala62=
NR_149162.3:n.265A>G
NR_149163.3:n.265A>G