Canonical Allele Identifier: CA443005624

Gene: TERT

Linked Data

• ClinVar Variation Id: 539242
• ClinVar RCV Id: RCV001153059 ; RCV001153060 ; RCV001153061 ; RCV002406439 ; RCV002530518
• dbSNP Id: rs1554043134
• gnomAD v3: 5-1294801-C-T
• gnomAD v4: 5-1294801-C-T
• MyVariant Identifiers: chr5:g.1294916C>T (hg19) ; chr5:g.1294801C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1294801C>T , CM000667.2:g.1294801C>T	GRCh38
NC_000005.9:g.1294916C>T , CM000667.1:g.1294916C>T	GRCh37
NC_000005.8:g.1347916C>T	NCBI36
NG_009265.1:g.5247G>A , LRG_343:g.5247G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310581.10:c.189G>A MANE Select	ENSP00000309572.5:p.Arg63=
ENST00000656021.1:c.189G>A	ENSP00000499759.1:p.Arg63=
ENST00000310581.9:c.189G>A	ENSP00000309572.5:p.Arg63=
ENST00000334602.10:c.189G>A	ENSP00000334346.6:p.Arg63=
ENST00000460137.6:c.189G>A	ENSP00000425003.1:p.Arg63=
ENST00000508104.2:c.189G>A	ENSP00000426042.2:p.Arg63=
ENST00000522877.1:n.269G>A
NM_001193376.1:c.189G>A	NP_001180305.1:p.Arg63=
NM_198253.2:c.189G>A , LRG_343t1:c.189G>A	NP_937983.2:p.Arg63=
NR_149162.1:n.247G>A
NR_149163.1:n.247G>A
NM_001193376.2:c.189G>A	NP_001180305.1:p.Arg63=
NM_198253.3:c.189G>A MANE Select	NP_937983.2:p.Arg63=
NR_149162.2:n.268G>A
NR_149163.2:n.268G>A
NM_001193376.3:c.189G>A	NP_001180305.1:p.Arg63=
NR_149162.3:n.268G>A
NR_149163.3:n.268G>A