Canonical Allele Identifier: CA359086446

Gene: TERT

Linked Data

• ClinVar Variation Id: 573186
• ClinVar RCV Id: RCV002531494
• dbSNP Id: rs1561213606
• MyVariant Identifiers: chr5:g.1293757A>C (hg19) ; chr5:g.1293642A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1293642A>C , CM000667.2:g.1293642A>C	GRCh38
NC_000005.9:g.1293757A>C , CM000667.1:g.1293757A>C	GRCh37
NC_000005.8:g.1346757A>C	NCBI36
NG_009265.1:g.6406T>G , LRG_343:g.6406T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310581.10:c.1244T>G MANE Select	ENSP00000309572.5:p.Leu415Arg
ENST00000656021.1:c.1244T>G	ENSP00000499759.1:p.Leu415Arg
ENST00000310581.9:c.1244T>G	ENSP00000309572.5:p.Leu415Arg
ENST00000334602.10:c.1244T>G	ENSP00000334346.6:p.Leu415Arg
ENST00000460137.6:c.1244T>G	ENSP00000425003.1:p.Leu415Arg
ENST00000508104.2:c.1244T>G	ENSP00000426042.2:p.Leu415Arg
NM_001193376.1:c.1244T>G	NP_001180305.1:p.Leu415Arg
NM_198253.2:c.1244T>G , LRG_343t1:c.1244T>G	NP_937983.2:p.Leu415Arg
NR_149162.1:n.1302T>G
NR_149163.1:n.1302T>G
NM_001193376.2:c.1244T>G	NP_001180305.1:p.Leu415Arg
NM_198253.3:c.1244T>G MANE Select	NP_937983.2:p.Leu415Arg
NR_149162.2:n.1323T>G
NR_149163.2:n.1323T>G
NM_001193376.3:c.1244T>G	NP_001180305.1:p.Leu415Arg
NR_149162.3:n.1323T>G
NR_149163.3:n.1323T>G