Canonical Allele Identifier: CA359080157

Gene: TERT

Linked Data

• ClinVar Variation Id: 1785640
• ClinVar RCV Id: RCV002423952
• gnomAD v4: 5-1279335-G-T
• MyVariant Identifiers: chr5:g.1279450G>T (hg19) ; chr5:g.1279335G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1279335G>T , CM000667.2:g.1279335G>T	GRCh38
NC_000005.9:g.1279450G>T , CM000667.1:g.1279450G>T	GRCh37
NC_000005.8:g.1332450G>T	NCBI36
NG_009265.1:g.20713C>A , LRG_343:g.20713C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310581.10:c.2086C>A MANE Select	ENSP00000309572.5:p.Arg696Ser
ENST00000656021.1:c.*1632C>A	ENSP00000499759.1:n.*1632C>A
ENST00000310581.9:c.2086C>A	ENSP00000309572.5:p.Arg696Ser
ENST00000334602.10:c.2086C>A	ENSP00000334346.6:p.Arg696Ser
ENST00000460137.6:c.2086C>A	ENSP00000425003.1:p.Arg696Ser
ENST00000484238.6:n.899C>A
ENST00000508104.2:c.2086C>A	ENSP00000426042.2:p.Arg696Ser
NM_001193376.1:c.2086C>A	NP_001180305.1:p.Arg696Ser
NM_198253.2:c.2086C>A , LRG_343t1:c.2086C>A	NP_937983.2:p.Arg696Ser
XM_011514104.1:c.556C>A	XP_011512406.1:p.Arg186Ser
XM_011514105.1:c.442C>A	XP_011512407.1:p.Arg148Ser
XM_011514106.1:c.442C>A	XP_011512408.1:p.Arg148Ser
NR_149162.1:n.2144C>A
NR_149163.1:n.2144C>A
NM_001193376.2:c.2086C>A	NP_001180305.1:p.Arg696Ser
NM_198253.3:c.2086C>A MANE Select	NP_937983.2:p.Arg696Ser
NR_149162.2:n.2165C>A
NR_149163.2:n.2165C>A
NM_001193376.3:c.2086C>A	NP_001180305.1:p.Arg696Ser
NR_149162.3:n.2165C>A
NR_149163.3:n.2165C>A