Canonical Allele Identifier: CA2673078240

Gene: TERT

Linked Data

• gnomAD v4: 5-1268474-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1268474C>A , CM000667.2:g.1268474C>A	GRCh38
NC_000005.9:g.1268589C>A , CM000667.1:g.1268589C>A	GRCh37
NC_000005.8:g.1321589C>A	NCBI36
NG_009265.1:g.31574G>T , LRG_343:g.31574G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000310581.10:c.2582+46G>T MANE Select	ENSP00000309572.5:n.2582+46G>T
ENST00000656021.1:c.*2128+46G>T	ENSP00000499759.1:n.*2128+46G>T
ENST00000310581.9:c.2582+46G>T	ENSP00000309572.5:n.2582+46G>T
ENST00000334602.10:c.2582+46G>T	ENSP00000334346.6:n.2582+46G>T
ENST00000460137.6:c.2364+46G>T	ENSP00000425003.1:n.2364+46G>T
ENST00000484238.6:n.1213+46G>T
ENST00000508104.2:c.2400+46G>T	ENSP00000426042.2:n.2400+46G>T
NM_001193376.1:c.2582+46G>T	NP_001180305.1:n.2582+46G>T
NM_198253.2:c.2582+46G>T , LRG_343t1:c.2582+46G>T	NP_937983.2:n.2582+46G>T
XM_011514104.1:c.1052+46G>T	XP_011512406.1:n.1052+46G>T
XM_011514105.1:c.938+46G>T	XP_011512407.1:n.938+46G>T
XM_011514106.1:c.938+46G>T	XP_011512408.1:n.938+46G>T
NR_149162.1:n.2458+46G>T
NR_149163.1:n.2422+46G>T
NM_001193376.2:c.2582+46G>T	NP_001180305.1:n.2582+46G>T
NM_198253.3:c.2582+46G>T MANE Select	NP_937983.2:n.2582+46G>T
NR_149162.2:n.2479+46G>T
NR_149163.2:n.2443+46G>T
NM_001193376.3:c.2582+46G>T	NP_001180305.1:n.2582+46G>T
NR_149162.3:n.2479+46G>T
NR_149163.3:n.2443+46G>T