Canonical Allele Identifier: CA359059300

Gene: TERT

Linked Data

• ClinVar Variation Id: 1427113
• ClinVar RCV Id: RCV002560544
• dbSNP Id: rs2126692072
• gnomAD v4: 5-1294881-G-C
• MyVariant Identifiers: chr5:g.1294996G>C (hg19) ; chr5:g.1294881G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1294881G>C , CM000667.2:g.1294881G>C	GRCh38
NC_000005.9:g.1294996G>C , CM000667.1:g.1294996G>C	GRCh37
NC_000005.8:g.1347996G>C	NCBI36
NG_009265.1:g.5167C>G , LRG_343:g.5167C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000310581.10:c.109C>G MANE Select	ENSP00000309572.5:p.Arg37Gly
ENST00000656021.1:c.109C>G	ENSP00000499759.1:p.Arg37Gly
ENST00000310581.9:c.109C>G	ENSP00000309572.5:p.Arg37Gly
ENST00000334602.10:c.109C>G	ENSP00000334346.6:p.Arg37Gly
ENST00000460137.6:c.109C>G	ENSP00000425003.1:p.Arg37Gly
ENST00000508104.2:c.109C>G	ENSP00000426042.2:p.Arg37Gly
ENST00000522877.1:n.189C>G
NM_001193376.1:c.109C>G	NP_001180305.1:p.Arg37Gly
NM_198253.2:c.109C>G , LRG_343t1:c.109C>G	NP_937983.2:p.Arg37Gly
NR_149162.1:n.167C>G
NR_149163.1:n.167C>G
NM_001193376.2:c.109C>G	NP_001180305.1:p.Arg37Gly
NM_198253.3:c.109C>G MANE Select	NP_937983.2:p.Arg37Gly
NR_149162.2:n.188C>G
NR_149163.2:n.188C>G
NM_001193376.3:c.109C>G	NP_001180305.1:p.Arg37Gly
NR_149162.3:n.188C>G
NR_149163.3:n.188C>G