Canonical Allele Identifier: CA359056098

Gene: TERT

Linked Data

• ClinVar Variation Id: 2131042
• ClinVar RCV Id: RCV003052347
• gnomAD v4: 5-1293937-A-G
• MyVariant Identifiers: chr5:g.1294052A>G (hg19) ; chr5:g.1293937A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1293937A>G , CM000667.2:g.1293937A>G	GRCh38
NC_000005.9:g.1294052A>G , CM000667.1:g.1294052A>G	GRCh37
NC_000005.8:g.1347052A>G	NCBI36
NG_009265.1:g.6111T>C , LRG_343:g.6111T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310581.10:c.949T>C MANE Select	ENSP00000309572.5:p.Trp317Arg
ENST00000656021.1:c.949T>C	ENSP00000499759.1:p.Trp317Arg
ENST00000310581.9:c.949T>C	ENSP00000309572.5:p.Trp317Arg
ENST00000334602.10:c.949T>C	ENSP00000334346.6:p.Trp317Arg
ENST00000460137.6:c.949T>C	ENSP00000425003.1:p.Trp317Arg
ENST00000508104.2:c.949T>C	ENSP00000426042.2:p.Trp317Arg
NM_001193376.1:c.949T>C	NP_001180305.1:p.Trp317Arg
NM_198253.2:c.949T>C , LRG_343t1:c.949T>C	NP_937983.2:p.Trp317Arg
NR_149162.1:n.1007T>C
NR_149163.1:n.1007T>C
NM_001193376.2:c.949T>C	NP_001180305.1:p.Trp317Arg
NM_198253.3:c.949T>C MANE Select	NP_937983.2:p.Trp317Arg
NR_149162.2:n.1028T>C
NR_149163.2:n.1028T>C
NM_001193376.3:c.949T>C	NP_001180305.1:p.Trp317Arg
NR_149162.3:n.1028T>C
NR_149163.3:n.1028T>C