Canonical Allele Identifier: CA129990

Gene: TERT

Linked Data

• ClinVar Variation Id: 39121
• ClinVar RCV Id: RCV000030632 ; RCV000032393 ; RCV000151992 ; RCV000305704 ; RCV000395635 ; RCV001262530 ; RCV001573195 ; RCV002513302 ; RCV002321495
• dbSNP Id: rs35719940
• ExAC: 5:1254594 C / T
• gnomAD v2: 5-1254594-C-T
• gnomAD v3: 5-1254479-C-T
• gnomAD v4: 5-1254479-C-T
• MyVariant Identifiers: chr5:g.1254594C>T (hg19) ; chr5:g.1254479C>T (hg38)
• PubMed: PMID:15814878 ; PMID:17460043 ; PMID:18753630 ; PMID:18931339 ; PMID:19147845 ; PMID:19760749 ; PMID:19796246 ; PMID:20301779 ; PMID:20966039 ; PMID:21520173 ; PMID:23538340 ; PMID:23901009 ; PMID:24983628 ; PMID:25108601

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1254479C>T , CM000667.2:g.1254479C>T	GRCh38
NC_000005.9:g.1254594C>T , CM000667.1:g.1254594C>T	GRCh37
NC_000005.8:g.1307594C>T	NCBI36
NG_009265.1:g.45569G>A , LRG_343:g.45569G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310581.10:c.3184G>A MANE Select	ENSP00000309572.5:p.Ala1062Thr
ENST00000656021.1:c.*2730G>A	ENSP00000499759.1:n.*2730G>A
ENST00000310581.9:c.3184G>A	ENSP00000309572.5:p.Ala1062Thr
ENST00000334602.10:c.2995G>A	ENSP00000334346.6:p.Ala999Thr
ENST00000460137.6:c.2777G>A	ENSP00000425003.1:n.2777G>A
ENST00000484238.6:n.1626G>A
NM_001193376.1:c.2995G>A	NP_001180305.1:p.Ala999Thr
NM_198253.2:c.3184G>A , LRG_343t1:c.3184G>A	NP_937983.2:p.Ala1062Thr
XM_011514104.1:c.1654G>A	XP_011512406.1:p.Ala552Thr
XM_011514105.1:c.1540G>A	XP_011512407.1:p.Ala514Thr
XM_011514106.1:c.1540G>A	XP_011512408.1:p.Ala514Thr
XR_925683.1:n.287-195C>T
NR_149162.1:n.2871G>A
NR_149163.1:n.2835G>A
NM_001193376.2:c.2995G>A	NP_001180305.1:p.Ala999Thr
NM_198253.3:c.3184G>A MANE Select	NP_937983.2:p.Ala1062Thr
NR_149162.2:n.2892G>A
NR_149163.2:n.2856G>A
NM_001193376.3:c.2995G>A	NP_001180305.1:p.Ala999Thr
NR_149162.3:n.2892G>A
NR_149163.3:n.2856G>A