Canonical Allele Identifier: CA343457

Gene: TERT

Linked Data

• ClinVar Variation Id: 39122
• ClinVar RCV Id: RCV000032395 ; RCV002514134 ; RCV002509177 ; RCV002482937 ; RCV003329237 ; RCV003460538
• dbSNP Id: rs199422306
• ExAC: 5:1253913 G / A
• gnomAD v2: 5-1253913-G-A
• gnomAD v3: 5-1253798-G-A
• gnomAD v4: 5-1253798-G-A
• COSMIC: COSM1567531 ; COSM1567532
• MyVariant Identifiers: chr5:g.1253913G>A (hg19) ; chr5:g.1253798G>A (hg38)
• PubMed: PMID:20301779

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1253798G>A , CM000667.2:g.1253798G>A	GRCh38
NC_000005.9:g.1253913G>A , CM000667.1:g.1253913G>A	GRCh37
NC_000005.8:g.1306913G>A	NCBI36
NG_009265.1:g.46250C>T , LRG_343:g.46250C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310581.10:c.3329C>T MANE Select	ENSP00000309572.5:p.Thr1110Met
ENST00000656021.1:c.*2875C>T	ENSP00000499759.1:n.*2875C>T
ENST00000310581.9:c.3329C>T	ENSP00000309572.5:p.Thr1110Met
ENST00000334602.10:c.3140C>T	ENSP00000334346.6:p.Thr1047Met
ENST00000460137.6:c.2922C>T	ENSP00000425003.1:n.2922C>T
ENST00000484238.6:n.1771C>T
NM_001193376.1:c.3140C>T	NP_001180305.1:p.Thr1047Met
NM_198253.2:c.3329C>T , LRG_343t1:c.3329C>T	NP_937983.2:p.Thr1110Met
XM_011514104.1:c.1799C>T	XP_011512406.1:p.Thr600Met
XM_011514105.1:c.1685C>T	XP_011512407.1:p.Thr562Met
XM_011514106.1:c.1685C>T	XP_011512408.1:p.Thr562Met
XR_925683.1:n.287-876G>A
NR_149162.1:n.3016C>T
NR_149163.1:n.2980C>T
NM_001193376.2:c.3140C>T	NP_001180305.1:p.Thr1047Met
NM_198253.3:c.3329C>T MANE Select	NP_937983.2:p.Thr1110Met
NR_149162.2:n.3037C>T
NR_149163.2:n.3001C>T
NM_001193376.3:c.3140C>T	NP_001180305.1:p.Thr1047Met
NR_149162.3:n.3037C>T
NR_149163.3:n.3001C>T