Canonical Allele Identifier: CA122663

Gene: TERT

Linked Data

• ClinVar Variation Id: 12735
• ClinVar RCV Id: RCV000013572 ; RCV000032389
• dbSNP Id: rs121918665
• MyVariant Identifiers: chr5:g.1264656C>G (hg19) ; chr5:g.1264541C>G (hg38)
• PubMed: PMID:16247010 ; PMID:20301779

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1264541C>G , CM000667.2:g.1264541C>G	GRCh38
NC_000005.9:g.1264656C>G , CM000667.1:g.1264656C>G	GRCh37
NC_000005.8:g.1317656C>G	NCBI36
NG_009265.1:g.35507G>C , LRG_343:g.35507G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310581.10:c.2706G>C MANE Select	ENSP00000309572.5:p.Lys902Asn
ENST00000656021.1:c.*2252G>C	ENSP00000499759.1:n.*2252G>C
ENST00000310581.9:c.2706G>C	ENSP00000309572.5:p.Lys902Asn
ENST00000334602.10:c.2654+1923G>C	ENSP00000334346.6:n.2654+1923G>C
ENST00000460137.6:c.2436+1923G>C	ENSP00000425003.1:n.2436+1923G>C
ENST00000484238.6:n.1285+1923G>C
ENST00000503656.1:n.113G>C
NM_001193376.1:c.2654+1923G>C	NP_001180305.1:n.2654+1923G>C
NM_198253.2:c.2706G>C , LRG_343t1:c.2706G>C	NP_937983.2:p.Lys902Asn
XM_011514104.1:c.1176G>C	XP_011512406.1:p.Lys392Asn
XM_011514105.1:c.1062G>C	XP_011512407.1:p.Lys354Asn
XM_011514106.1:c.1062G>C	XP_011512408.1:p.Lys354Asn
NR_149162.1:n.2530+1923G>C
NR_149163.1:n.2494+1923G>C
NM_001193376.2:c.2654+1923G>C	NP_001180305.1:n.2654+1923G>C
NM_198253.3:c.2706G>C MANE Select	NP_937983.2:p.Lys902Asn
NR_149162.2:n.2551+1923G>C
NR_149163.2:n.2515+1923G>C
NM_001193376.3:c.2654+1923G>C	NP_001180305.1:n.2654+1923G>C
NR_149162.3:n.2551+1923G>C
NR_149163.3:n.2515+1923G>C