Canonical Allele Identifier: CA3184775

Gene: TERT

Linked Data

• ClinVar Variation Id: 263103
• ClinVar RCV Id: RCV000248852 ; RCV002411131 ; RCV003105841
• dbSNP Id: rs202108457
• ExAC: 5:1282528 C / T
• gnomAD v2: 5-1282528-C-T
• gnomAD v3: 5-1282413-C-T
• gnomAD v4: 5-1282413-C-T
• MyVariant Identifiers: chr5:g.1282528C>T (hg19) ; chr5:g.1282413C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1282413C>T , CM000667.2:g.1282413C>T	GRCh38
NC_000005.9:g.1282528C>T , CM000667.1:g.1282528C>T	GRCh37
NC_000005.8:g.1335528C>T	NCBI36
NG_009265.1:g.17635G>A , LRG_343:g.17635G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310581.10:c.1769+16G>A MANE Select	ENSP00000309572.5:n.1769+16G>A
ENST00000656021.1:c.*1315+16G>A	ENSP00000499759.1:n.*1315+16G>A
ENST00000310581.9:c.1769+16G>A	ENSP00000309572.5:n.1769+16G>A
ENST00000334602.10:c.1769+16G>A	ENSP00000334346.6:n.1769+16G>A
ENST00000460137.6:c.1769+16G>A	ENSP00000425003.1:n.1769+16G>A
ENST00000484238.6:n.582+16G>A
ENST00000508104.2:c.1769+16G>A	ENSP00000426042.2:n.1769+16G>A
NM_001193376.1:c.1769+16G>A	NP_001180305.1:n.1769+16G>A
NM_198253.2:c.1769+16G>A , LRG_343t1:c.1769+16G>A	NP_937983.2:n.1769+16G>A
XM_011514104.1:c.239+16G>A	XP_011512406.1:n.239+16G>A
XM_011514105.1:c.125+16G>A	XP_011512407.1:n.125+16G>A
XM_011514106.1:c.125+16G>A	XP_011512408.1:n.125+16G>A
NR_149162.1:n.1827+16G>A
NR_149163.1:n.1827+16G>A
NM_001193376.2:c.1769+16G>A	NP_001180305.1:n.1769+16G>A
NM_198253.3:c.1769+16G>A MANE Select	NP_937983.2:n.1769+16G>A
NR_149162.2:n.1848+16G>A
NR_149163.2:n.1848+16G>A
NM_001193376.3:c.1769+16G>A	NP_001180305.1:n.1769+16G>A
NR_149162.3:n.1848+16G>A
NR_149163.3:n.1848+16G>A