Canonical Allele Identifier: CA3184848

Gene: TERT

Linked Data

• ClinVar Variation Id: 539202
• ClinVar RCV Id: RCV000765803 ; RCV003236829 ; RCV002533376 ; RCV004544884
• dbSNP Id: rs758110675
• ExAC: 5:1293608 C / G
• gnomAD v2: 5-1293608-C-G
• gnomAD v3: 5-1293493-C-G
• gnomAD v4: 5-1293493-C-G
• MyVariant Identifiers: chr5:g.1293608C>G (hg19) ; chr5:g.1293493C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1293493C>G , CM000667.2:g.1293493C>G	GRCh38
NC_000005.9:g.1293608C>G , CM000667.1:g.1293608C>G	GRCh37
NC_000005.8:g.1346608C>G	NCBI36
NG_009265.1:g.6555G>C , LRG_343:g.6555G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310581.10:c.1393G>C MANE Select	ENSP00000309572.5:p.Val465Leu
ENST00000656021.1:c.1393G>C	ENSP00000499759.1:p.Val465Leu
ENST00000310581.9:c.1393G>C	ENSP00000309572.5:p.Val465Leu
ENST00000334602.10:c.1393G>C	ENSP00000334346.6:p.Val465Leu
ENST00000460137.6:c.1393G>C	ENSP00000425003.1:p.Val465Leu
ENST00000508104.2:c.1393G>C	ENSP00000426042.2:p.Val465Leu
NM_001193376.1:c.1393G>C	NP_001180305.1:p.Val465Leu
NM_198253.2:c.1393G>C , LRG_343t1:c.1393G>C	NP_937983.2:p.Val465Leu
NR_149162.1:n.1451G>C
NR_149163.1:n.1451G>C
NM_001193376.2:c.1393G>C	NP_001180305.1:p.Val465Leu
NM_198253.3:c.1393G>C MANE Select	NP_937983.2:p.Val465Leu
NR_149162.2:n.1472G>C
NR_149163.2:n.1472G>C
NM_001193376.3:c.1393G>C	NP_001180305.1:p.Val465Leu
NR_149162.3:n.1472G>C
NR_149163.3:n.1472G>C