Canonical Allele Identifier: CA359079665

Gene: TERT

Linked Data

• ClinVar Variation Id: 1433750
• ClinVar RCV Id: RCV002282656 ; RCV002561466 ; RCV003481200
• dbSNP Id: rs1579574994
• gnomAD v4: 5-1278775-C-T
• COSMIC: COSM4535081
• MyVariant Identifiers: chr5:g.1278890C>T (hg19) ; chr5:g.1278775C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1278775C>T , CM000667.2:g.1278775C>T	GRCh38
NC_000005.9:g.1278890C>T , CM000667.1:g.1278890C>T	GRCh37
NC_000005.8:g.1331890C>T	NCBI36
NG_009265.1:g.21273G>A , LRG_343:g.21273G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000310581.10:c.2152G>A MANE Select	ENSP00000309572.5:p.Asp718Asn
ENST00000656021.1:c.*1698G>A	ENSP00000499759.1:n.*1698G>A
ENST00000310581.9:c.2152G>A	ENSP00000309572.5:p.Asp718Asn
ENST00000334602.10:c.2152G>A	ENSP00000334346.6:p.Asp718Asn
ENST00000460137.6:c.2131-15G>A	ENSP00000425003.1:n.2131-15G>A
ENST00000484238.6:n.965G>A
ENST00000508104.2:c.2152G>A	ENSP00000426042.2:p.Asp718Asn
NM_001193376.1:c.2152G>A	NP_001180305.1:p.Asp718Asn
NM_198253.2:c.2152G>A , LRG_343t1:c.2152G>A	NP_937983.2:p.Asp718Asn
XM_011514104.1:c.622G>A	XP_011512406.1:p.Asp208Asn
XM_011514105.1:c.508G>A	XP_011512407.1:p.Asp170Asn
XM_011514106.1:c.508G>A	XP_011512408.1:p.Asp170Asn
NR_149162.1:n.2210G>A
NR_149163.1:n.2189-15G>A
NM_001193376.2:c.2152G>A	NP_001180305.1:p.Asp718Asn
NM_198253.3:c.2152G>A MANE Select	NP_937983.2:p.Asp718Asn
NR_149162.2:n.2231G>A
NR_149163.2:n.2210-15G>A
NM_001193376.3:c.2152G>A	NP_001180305.1:p.Asp718Asn
NR_149162.3:n.2231G>A
NR_149163.3:n.2210-15G>A