Canonical Allele Identifier: CA359058803

Gene: TERT

Linked Data

• ClinVar Variation Id: 2447517
• ClinVar RCV Id: RCV003176485 ; RCV003778947
• gnomAD v4: 5-1294784-G-A
• MyVariant Identifiers: chr5:g.1294899G>A (hg19) ; chr5:g.1294784G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1294784G>A , CM000667.2:g.1294784G>A	GRCh38
NC_000005.9:g.1294899G>A , CM000667.1:g.1294899G>A	GRCh37
NC_000005.8:g.1347899G>A	NCBI36
NG_009265.1:g.5264C>T , LRG_343:g.5264C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000310581.10:c.206C>T MANE Select	ENSP00000309572.5:p.Pro69Leu
ENST00000656021.1:c.206C>T	ENSP00000499759.1:p.Pro69Leu
ENST00000310581.9:c.206C>T	ENSP00000309572.5:p.Pro69Leu
ENST00000334602.10:c.206C>T	ENSP00000334346.6:p.Pro69Leu
ENST00000460137.6:c.206C>T	ENSP00000425003.1:p.Pro69Leu
ENST00000508104.2:c.206C>T	ENSP00000426042.2:p.Pro69Leu
ENST00000522877.1:n.286C>T
NM_001193376.1:c.206C>T	NP_001180305.1:p.Pro69Leu
NM_198253.2:c.206C>T , LRG_343t1:c.206C>T	NP_937983.2:p.Pro69Leu
NR_149162.1:n.264C>T
NR_149163.1:n.264C>T
NM_001193376.2:c.206C>T	NP_001180305.1:p.Pro69Leu
NM_198253.3:c.206C>T MANE Select	NP_937983.2:p.Pro69Leu
NR_149162.2:n.285C>T
NR_149163.2:n.285C>T
NM_001193376.3:c.206C>T	NP_001180305.1:p.Pro69Leu
NR_149162.3:n.285C>T
NR_149163.3:n.285C>T