Canonical Allele Identifier: CA3184840

Gene: TERT

Linked Data

• ClinVar Variation Id: 1773167
• ClinVar RCV Id: RCV002396741 ; RCV003774341
• dbSNP Id: rs772545351
• ExAC: 5:1293540 G / A
• gnomAD v2: 5-1293540-G-A
• gnomAD v4: 5-1293425-G-A
• COSMIC: COSM5610818 ; COSM5610819
• MyVariant Identifiers: chr5:g.1293540G>A (hg19) ; chr5:g.1293425G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1293425G>A , CM000667.2:g.1293425G>A	GRCh38
NC_000005.9:g.1293540G>A , CM000667.1:g.1293540G>A	GRCh37
NC_000005.8:g.1346540G>A	NCBI36
NG_009265.1:g.6623C>T , LRG_343:g.6623C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310581.10:c.1461C>T MANE Select	ENSP00000309572.5:p.Phe487=
ENST00000656021.1:c.1461C>T	ENSP00000499759.1:p.Phe487=
ENST00000310581.9:c.1461C>T	ENSP00000309572.5:p.Phe487=
ENST00000334602.10:c.1461C>T	ENSP00000334346.6:p.Phe487=
ENST00000460137.6:c.1461C>T	ENSP00000425003.1:p.Phe487=
ENST00000508104.2:c.1461C>T	ENSP00000426042.2:p.Phe487=
NM_001193376.1:c.1461C>T	NP_001180305.1:p.Phe487=
NM_198253.2:c.1461C>T , LRG_343t1:c.1461C>T	NP_937983.2:p.Phe487=
NR_149162.1:n.1519C>T
NR_149163.1:n.1519C>T
NM_001193376.2:c.1461C>T	NP_001180305.1:p.Phe487=
NM_198253.3:c.1461C>T MANE Select	NP_937983.2:p.Phe487=
NR_149162.2:n.1540C>T
NR_149163.2:n.1540C>T
NM_001193376.3:c.1461C>T	NP_001180305.1:p.Phe487=
NR_149162.3:n.1540C>T
NR_149163.3:n.1540C>T