Canonical Allele Identifier: CA359069863

Gene: TERT

Linked Data

• dbSNP Id: rs1482563385
• gnomAD v2: 5-1260630-C-A
• gnomAD v3: 5-1260515-C-A
• gnomAD v4: 5-1260515-C-A
• MyVariant Identifiers: chr5:g.1260630C>A (hg19) ; chr5:g.1260515C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1260515C>A , CM000667.2:g.1260515C>A	GRCh38
NC_000005.9:g.1260630C>A , CM000667.1:g.1260630C>A	GRCh37
NC_000005.8:g.1313630C>A	NCBI36
NG_009265.1:g.39533G>T , LRG_343:g.39533G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000310581.10:c.2929G>T MANE Select	ENSP00000309572.5:p.Val977Phe
ENST00000656021.1:c.*2475G>T	ENSP00000499759.1:n.*2475G>T
ENST00000667927.1:n.217G>T
ENST00000310581.9:c.2929G>T	ENSP00000309572.5:p.Val977Phe
ENST00000334602.10:c.2740G>T	ENSP00000334346.6:p.Val914Phe
ENST00000460137.6:c.2522G>T	ENSP00000425003.1:n.2522G>T
ENST00000484238.6:n.1371G>T
NM_001193376.1:c.2740G>T	NP_001180305.1:p.Val914Phe
NM_198253.2:c.2929G>T , LRG_343t1:c.2929G>T	NP_937983.2:p.Val977Phe
XM_011514104.1:c.1399G>T	XP_011512406.1:p.Val467Phe
XM_011514105.1:c.1285G>T	XP_011512407.1:p.Val429Phe
XM_011514106.1:c.1285G>T	XP_011512408.1:p.Val429Phe
NR_149162.1:n.2616G>T
NR_149163.1:n.2580G>T
NM_001193376.2:c.2740G>T	NP_001180305.1:p.Val914Phe
NM_198253.3:c.2929G>T MANE Select	NP_937983.2:p.Val977Phe
NR_149162.2:n.2637G>T
NR_149163.2:n.2601G>T
NM_001193376.3:c.2740G>T	NP_001180305.1:p.Val914Phe
NR_149162.3:n.2637G>T
NR_149163.3:n.2601G>T