Canonical Allele Identifier: CA178137

Gene: TERT

Linked Data

• ClinVar Variation Id: 165380
• ClinVar RCV Id: RCV000151998 ; RCV002371997 ; RCV002256087 ; RCV002516058 ; RCV003457647 ; RCV003315941
• dbSNP Id: rs148549782
• ExAC: 5:1294032 C / T
• gnomAD v2: 5-1294032-C-T
• gnomAD v3: 5-1293917-C-T
• gnomAD v4: 5-1293917-C-T
• MyVariant Identifiers: chr5:g.1294032C>T (hg19) ; chr5:g.1293917C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1293917C>T , CM000667.2:g.1293917C>T	GRCh38
NC_000005.9:g.1294032C>T , CM000667.1:g.1294032C>T	GRCh37
NC_000005.8:g.1347032C>T	NCBI36
NG_009265.1:g.6131G>A , LRG_343:g.6131G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310581.10:c.969G>A MANE Select	ENSP00000309572.5:p.Pro323=
ENST00000656021.1:c.969G>A	ENSP00000499759.1:p.Pro323=
ENST00000310581.9:c.969G>A	ENSP00000309572.5:p.Pro323=
ENST00000334602.10:c.969G>A	ENSP00000334346.6:p.Pro323=
ENST00000460137.6:c.969G>A	ENSP00000425003.1:p.Pro323=
ENST00000508104.2:c.969G>A	ENSP00000426042.2:p.Pro323=
NM_001193376.1:c.969G>A	NP_001180305.1:p.Pro323=
NM_198253.2:c.969G>A , LRG_343t1:c.969G>A	NP_937983.2:p.Pro323=
NR_149162.1:n.1027G>A
NR_149163.1:n.1027G>A
NM_001193376.2:c.969G>A	NP_001180305.1:p.Pro323=
NM_198253.3:c.969G>A MANE Select	NP_937983.2:p.Pro323=
NR_149162.2:n.1048G>A
NR_149163.2:n.1048G>A
NM_001193376.3:c.969G>A	NP_001180305.1:p.Pro323=
NR_149162.3:n.1048G>A
NR_149163.3:n.1048G>A