Canonical Allele Identifier: CA359056111

Gene: TERT

Linked Data

• ClinVar Variation Id: 436988
• ClinVar RCV Id: RCV000503974 ; RCV002524312 ; RCV002376930
• dbSNP Id: rs1554042911
• gnomAD v4: 5-1293943-G-T
• MyVariant Identifiers: chr5:g.1294058G>T (hg19) ; chr5:g.1293943G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1293943G>T , CM000667.2:g.1293943G>T	GRCh38
NC_000005.9:g.1294058G>T , CM000667.1:g.1294058G>T	GRCh37
NC_000005.8:g.1347058G>T	NCBI36
NG_009265.1:g.6105C>A , LRG_343:g.6105C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310581.10:c.943C>A MANE Select	ENSP00000309572.5:p.Arg315Ser
ENST00000656021.1:c.943C>A	ENSP00000499759.1:p.Arg315Ser
ENST00000310581.9:c.943C>A	ENSP00000309572.5:p.Arg315Ser
ENST00000334602.10:c.943C>A	ENSP00000334346.6:p.Arg315Ser
ENST00000460137.6:c.943C>A	ENSP00000425003.1:p.Arg315Ser
ENST00000508104.2:c.943C>A	ENSP00000426042.2:p.Arg315Ser
NM_001193376.1:c.943C>A	NP_001180305.1:p.Arg315Ser
NM_198253.2:c.943C>A , LRG_343t1:c.943C>A	NP_937983.2:p.Arg315Ser
NR_149162.1:n.1001C>A
NR_149163.1:n.1001C>A
NM_001193376.2:c.943C>A	NP_001180305.1:p.Arg315Ser
NM_198253.3:c.943C>A MANE Select	NP_937983.2:p.Arg315Ser
NR_149162.2:n.1022C>A
NR_149163.2:n.1022C>A
NM_001193376.3:c.943C>A	NP_001180305.1:p.Arg315Ser
NR_149162.3:n.1022C>A
NR_149163.3:n.1022C>A