Canonical Allele Identifier: CA3184916

Gene: TERT

Linked Data

• ClinVar Variation Id: 970991
• ClinVar RCV Id: RCV002256723 ; RCV002568661
• dbSNP Id: rs746036694
• ExAC: 5:1294224 C / T
• gnomAD v2: 5-1294224-C-T
• gnomAD v3: 5-1294109-C-T
• gnomAD v4: 5-1294109-C-T
• MyVariant Identifiers: chr5:g.1294224C>T (hg19) ; chr5:g.1294109C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1294109C>T , CM000667.2:g.1294109C>T	GRCh38
NC_000005.9:g.1294224C>T , CM000667.1:g.1294224C>T	GRCh37
NC_000005.8:g.1347224C>T	NCBI36
NG_009265.1:g.5939G>A , LRG_343:g.5939G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310581.10:c.777G>A MANE Select	ENSP00000309572.5:p.Pro259=
ENST00000656021.1:c.777G>A	ENSP00000499759.1:p.Pro259=
ENST00000310581.9:c.777G>A	ENSP00000309572.5:p.Pro259=
ENST00000334602.10:c.777G>A	ENSP00000334346.6:p.Pro259=
ENST00000460137.6:c.777G>A	ENSP00000425003.1:p.Pro259=
ENST00000508104.2:c.777G>A	ENSP00000426042.2:p.Pro259=
NM_001193376.1:c.777G>A	NP_001180305.1:p.Pro259=
NM_198253.2:c.777G>A , LRG_343t1:c.777G>A	NP_937983.2:p.Pro259=
NR_149162.1:n.835G>A
NR_149163.1:n.835G>A
NM_001193376.2:c.777G>A	NP_001180305.1:p.Pro259=
NM_198253.3:c.777G>A MANE Select	NP_937983.2:p.Pro259=
NR_149162.2:n.856G>A
NR_149163.2:n.856G>A
NM_001193376.3:c.777G>A	NP_001180305.1:p.Pro259=
NR_149162.3:n.856G>A
NR_149163.3:n.856G>A