Canonical Allele Identifier: CA359076294

Gene: TERT

Linked Data

• ClinVar Variation Id: 1363582
• ClinVar RCV Id: RCV002550300
• dbSNP Id: rs2126617732
• MyVariant Identifiers: chr5:g.1272334G>A (hg19) ; chr5:g.1272219G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1272219G>A , CM000667.2:g.1272219G>A	GRCh38
NC_000005.9:g.1272334G>A , CM000667.1:g.1272334G>A	GRCh37
NC_000005.8:g.1325334G>A	NCBI36
NG_009265.1:g.27829C>T , LRG_343:g.27829C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310581.10:c.2348C>T MANE Select	ENSP00000309572.5:p.Thr783Ile
ENST00000656021.1:c.*1894C>T	ENSP00000499759.1:n.*1894C>T
ENST00000310581.9:c.2348C>T	ENSP00000309572.5:p.Thr783Ile
ENST00000334602.10:c.2348C>T	ENSP00000334346.6:p.Thr783Ile
ENST00000460137.6:c.2251-3586C>T	ENSP00000425003.1:n.2251-3586C>T
ENST00000484238.6:n.1100-3586C>T
ENST00000508104.2:c.2287-3586C>T	ENSP00000426042.2:n.2287-3586C>T
NM_001193376.1:c.2348C>T	NP_001180305.1:p.Thr783Ile
NM_198253.2:c.2348C>T , LRG_343t1:c.2348C>T	NP_937983.2:p.Thr783Ile
XM_011514104.1:c.818C>T	XP_011512406.1:p.Thr273Ile
XM_011514105.1:c.704C>T	XP_011512407.1:p.Thr235Ile
XM_011514106.1:c.704C>T	XP_011512408.1:p.Thr235Ile
NR_149162.1:n.2345-3586C>T
NR_149163.1:n.2309-3586C>T
NM_001193376.2:c.2348C>T	NP_001180305.1:p.Thr783Ile
NM_198253.3:c.2348C>T MANE Select	NP_937983.2:p.Thr783Ile
NR_149162.2:n.2366-3586C>T
NR_149163.2:n.2330-3586C>T
NM_001193376.3:c.2348C>T	NP_001180305.1:p.Thr783Ile
NR_149162.3:n.2366-3586C>T
NR_149163.3:n.2330-3586C>T