Canonical Allele Identifier: CA2578275511

Gene: TERT

Linked Data

• gnomAD v4: 5-1268464-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1268464G>T , CM000667.2:g.1268464G>T	GRCh38
NC_000005.9:g.1268579G>T , CM000667.1:g.1268579G>T	GRCh37
NC_000005.8:g.1321579G>T	NCBI36
NG_009265.1:g.31584C>A , LRG_343:g.31584C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310581.10:c.2582+56C>A MANE Select	ENSP00000309572.5:n.2582+56C>A
ENST00000656021.1:c.*2128+56C>A	ENSP00000499759.1:n.*2128+56C>A
ENST00000310581.9:c.2582+56C>A	ENSP00000309572.5:n.2582+56C>A
ENST00000334602.10:c.2582+56C>A	ENSP00000334346.6:n.2582+56C>A
ENST00000460137.6:c.2364+56C>A	ENSP00000425003.1:n.2364+56C>A
ENST00000484238.6:n.1213+56C>A
ENST00000508104.2:c.2400+56C>A	ENSP00000426042.2:n.2400+56C>A
NM_001193376.1:c.2582+56C>A	NP_001180305.1:n.2582+56C>A
NM_198253.2:c.2582+56C>A , LRG_343t1:c.2582+56C>A	NP_937983.2:n.2582+56C>A
XM_011514104.1:c.1052+56C>A	XP_011512406.1:n.1052+56C>A
XM_011514105.1:c.938+56C>A	XP_011512407.1:n.938+56C>A
XM_011514106.1:c.938+56C>A	XP_011512408.1:n.938+56C>A
NR_149162.1:n.2458+56C>A
NR_149163.1:n.2422+56C>A
NM_001193376.2:c.2582+56C>A	NP_001180305.1:n.2582+56C>A
NM_198253.3:c.2582+56C>A MANE Select	NP_937983.2:n.2582+56C>A
NR_149162.2:n.2479+56C>A
NR_149163.2:n.2443+56C>A
NM_001193376.3:c.2582+56C>A	NP_001180305.1:n.2582+56C>A
NR_149162.3:n.2479+56C>A
NR_149163.3:n.2443+56C>A