Canonical Allele Identifier: CA359076368

Gene: TERT

Linked Data

• ClinVar Variation Id: 436985
• ClinVar RCV Id: RCV000500578 ; RCV003766854 ; RCV004535624
• dbSNP Id: rs1554040129
• gnomAD v4: 5-1272238-C-T
• COSMIC: COSM4733103 ; COSM4733104
• MyVariant Identifiers: chr5:g.1272353C>T (hg19) ; chr5:g.1272238C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1272238C>T , CM000667.2:g.1272238C>T	GRCh38
NC_000005.9:g.1272353C>T , CM000667.1:g.1272353C>T	GRCh37
NC_000005.8:g.1325353C>T	NCBI36
NG_009265.1:g.27810G>A , LRG_343:g.27810G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310581.10:c.2329G>A MANE Select	ENSP00000309572.5:p.Val777Met
ENST00000656021.1:c.*1875G>A	ENSP00000499759.1:n.*1875G>A
ENST00000310581.9:c.2329G>A	ENSP00000309572.5:p.Val777Met
ENST00000334602.10:c.2329G>A	ENSP00000334346.6:p.Val777Met
ENST00000460137.6:c.2251-3605G>A	ENSP00000425003.1:n.2251-3605G>A
ENST00000484238.6:n.1100-3605G>A
ENST00000508104.2:c.2287-3605G>A	ENSP00000426042.2:n.2287-3605G>A
NM_001193376.1:c.2329G>A	NP_001180305.1:p.Val777Met
NM_198253.2:c.2329G>A , LRG_343t1:c.2329G>A	NP_937983.2:p.Val777Met
XM_011514104.1:c.799G>A	XP_011512406.1:p.Val267Met
XM_011514105.1:c.685G>A	XP_011512407.1:p.Val229Met
XM_011514106.1:c.685G>A	XP_011512408.1:p.Val229Met
NR_149162.1:n.2345-3605G>A
NR_149163.1:n.2309-3605G>A
NM_001193376.2:c.2329G>A	NP_001180305.1:p.Val777Met
NM_198253.3:c.2329G>A MANE Select	NP_937983.2:p.Val777Met
NR_149162.2:n.2366-3605G>A
NR_149163.2:n.2330-3605G>A
NM_001193376.3:c.2329G>A	NP_001180305.1:p.Val777Met
NR_149162.3:n.2366-3605G>A
NR_149163.3:n.2330-3605G>A