Canonical Allele Identifier: CA3184448

Gene: TERT

Linked Data

• ClinVar Variation Id: 1574540
• ClinVar RCV Id: RCV003007004
• dbSNP Id: rs748792817
• ExAC: 5:1266667 T / C
• gnomAD v2: 5-1266667-T-C
• gnomAD v3: 5-1266552-T-C
• gnomAD v4: 5-1266552-T-C
• MyVariant Identifiers: chr5:g.1266667T>C (hg19) ; chr5:g.1266552T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1266552T>C , CM000667.2:g.1266552T>C	GRCh38
NC_000005.9:g.1266667T>C , CM000667.1:g.1266667T>C	GRCh37
NC_000005.8:g.1319667T>C	NCBI36
NG_009265.1:g.33496A>G , LRG_343:g.33496A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000310581.10:c.2583-17A>G MANE Select	ENSP00000309572.5:n.2583-17A>G
ENST00000656021.1:c.*2129-17A>G	ENSP00000499759.1:n.*2129-17A>G
ENST00000310581.9:c.2583-17A>G	ENSP00000309572.5:n.2583-17A>G
ENST00000334602.10:c.2583-17A>G	ENSP00000334346.6:n.2583-17A>G
ENST00000460137.6:c.2365-17A>G	ENSP00000425003.1:n.2365-17A>G
ENST00000484238.6:n.1214-17A>G
ENST00000508104.2:c.2401-17A>G	ENSP00000426042.2:n.2401-17A>G
NM_001193376.1:c.2583-17A>G	NP_001180305.1:n.2583-17A>G
NM_198253.2:c.2583-17A>G , LRG_343t1:c.2583-17A>G	NP_937983.2:n.2583-17A>G
XM_011514104.1:c.1053-17A>G	XP_011512406.1:n.1053-17A>G
XM_011514105.1:c.939-17A>G	XP_011512407.1:n.939-17A>G
XM_011514106.1:c.939-17A>G	XP_011512408.1:n.939-17A>G
NR_149162.1:n.2459-17A>G
NR_149163.1:n.2423-17A>G
NM_001193376.2:c.2583-17A>G	NP_001180305.1:n.2583-17A>G
NM_198253.3:c.2583-17A>G MANE Select	NP_937983.2:n.2583-17A>G
NR_149162.2:n.2480-17A>G
NR_149163.2:n.2444-17A>G
NM_001193376.3:c.2583-17A>G	NP_001180305.1:n.2583-17A>G
NR_149162.3:n.2480-17A>G
NR_149163.3:n.2444-17A>G