Canonical Allele Identifier: CA1522565357

Gene: TERT

Linked Data

• ClinVar Variation Id: 2165311
• ClinVar RCV Id: RCV003089912
• dbSNP Id: rs1579575684
• gnomAD v4: 5-1279278-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1279278C>T , CM000667.2:g.1279278C>T	GRCh38
NC_000005.9:g.1279393C>T , CM000667.1:g.1279393C>T	GRCh37
NC_000005.8:g.1332393C>T	NCBI36
NG_009265.1:g.20770G>A , LRG_343:g.20770G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000310581.10:c.2130+13G>A MANE Select	ENSP00000309572.5:n.2130+13G>A
ENST00000656021.1:c.*1676+13G>A	ENSP00000499759.1:n.*1676+13G>A
ENST00000310581.9:c.2130+13G>A	ENSP00000309572.5:n.2130+13G>A
ENST00000334602.10:c.2130+13G>A	ENSP00000334346.6:n.2130+13G>A
ENST00000460137.6:c.2130+13G>A	ENSP00000425003.1:n.2130+13G>A
ENST00000484238.6:n.943+13G>A
ENST00000508104.2:c.2130+13G>A	ENSP00000426042.2:n.2130+13G>A
NM_001193376.1:c.2130+13G>A	NP_001180305.1:n.2130+13G>A
NM_198253.2:c.2130+13G>A , LRG_343t1:c.2130+13G>A	NP_937983.2:n.2130+13G>A
XM_011514104.1:c.600+13G>A	XP_011512406.1:n.600+13G>A
XM_011514105.1:c.486+13G>A	XP_011512407.1:n.486+13G>A
XM_011514106.1:c.486+13G>A	XP_011512408.1:n.486+13G>A
NR_149162.1:n.2188+13G>A
NR_149163.1:n.2188+13G>A
NM_001193376.2:c.2130+13G>A	NP_001180305.1:n.2130+13G>A
NM_198253.3:c.2130+13G>A MANE Select	NP_937983.2:n.2130+13G>A
NR_149162.2:n.2209+13G>A
NR_149163.2:n.2209+13G>A
NM_001193376.3:c.2130+13G>A	NP_001180305.1:n.2130+13G>A
NR_149162.3:n.2209+13G>A
NR_149163.3:n.2209+13G>A