Canonical Allele Identifier: CA3184904

Gene: TERT

Linked Data

• ClinVar Variation Id: 471904
• ClinVar RCV Id: RCV001821580 ; RCV002255456 ; RCV001576510 ; RCV000987502 ; RCV002530177 ; RCV003316717
• dbSNP Id: rs199701877
• ExAC: 5:1294163 C / T
• gnomAD v2: 5-1294163-C-T
• gnomAD v3: 5-1294048-C-T
• gnomAD v4: 5-1294048-C-T
• COSMIC: COSM6352109 ; COSM6352110
• MyVariant Identifiers: chr5:g.1294163C>T (hg19) ; chr5:g.1294048C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1294048C>T , CM000667.2:g.1294048C>T	GRCh38
NC_000005.9:g.1294163C>T , CM000667.1:g.1294163C>T	GRCh37
NC_000005.8:g.1347163C>T	NCBI36
NG_009265.1:g.6000G>A , LRG_343:g.6000G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310581.10:c.838G>A MANE Select	ENSP00000309572.5:p.Glu280Lys
ENST00000656021.1:c.838G>A	ENSP00000499759.1:p.Glu280Lys
ENST00000310581.9:c.838G>A	ENSP00000309572.5:p.Glu280Lys
ENST00000334602.10:c.838G>A	ENSP00000334346.6:p.Glu280Lys
ENST00000460137.6:c.838G>A	ENSP00000425003.1:p.Glu280Lys
ENST00000508104.2:c.838G>A	ENSP00000426042.2:p.Glu280Lys
NM_001193376.1:c.838G>A	NP_001180305.1:p.Glu280Lys
NM_198253.2:c.838G>A , LRG_343t1:c.838G>A	NP_937983.2:p.Glu280Lys
NR_149162.1:n.896G>A
NR_149163.1:n.896G>A
NM_001193376.2:c.838G>A	NP_001180305.1:p.Glu280Lys
NM_198253.3:c.838G>A MANE Select	NP_937983.2:p.Glu280Lys
NR_149162.2:n.917G>A
NR_149163.2:n.917G>A
NM_001193376.3:c.838G>A	NP_001180305.1:p.Glu280Lys
NR_149162.3:n.917G>A
NR_149163.3:n.917G>A