Canonical Allele Identifier: CA359073335

Gene: TERT

Linked Data

• ClinVar Variation Id: 1641573
• ClinVar RCV Id: RCV003061795
• dbSNP Id: rs1748620153
• COSMIC: COSM4992212 ; COSM4992213
• MyVariant Identifiers: chr5:g.1266644G>A (hg19) ; chr5:g.1266529G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1266529G>A , CM000667.2:g.1266529G>A	GRCh38
NC_000005.9:g.1266644G>A , CM000667.1:g.1266644G>A	GRCh37
NC_000005.8:g.1319644G>A	NCBI36
NG_009265.1:g.33519C>T , LRG_343:g.33519C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310581.10:c.2589C>T MANE Select	ENSP00000309572.5:p.Leu863=
ENST00000656021.1:c.*2135C>T	ENSP00000499759.1:n.*2135C>T
ENST00000310581.9:c.2589C>T	ENSP00000309572.5:p.Leu863=
ENST00000334602.10:c.2589C>T	ENSP00000334346.6:p.Leu863=
ENST00000460137.6:c.2371C>T	ENSP00000425003.1:p.Pro791Ser
ENST00000484238.6:n.1220C>T
ENST00000508104.2:c.2407C>T	ENSP00000426042.2:p.Pro803Ser
NM_001193376.1:c.2589C>T	NP_001180305.1:p.Leu863=
NM_198253.2:c.2589C>T , LRG_343t1:c.2589C>T	NP_937983.2:p.Leu863=
XM_011514104.1:c.1059C>T	XP_011512406.1:p.Leu353=
XM_011514105.1:c.945C>T	XP_011512407.1:p.Leu315=
XM_011514106.1:c.945C>T	XP_011512408.1:p.Leu315=
NR_149162.1:n.2465C>T
NR_149163.1:n.2429C>T
NM_001193376.2:c.2589C>T	NP_001180305.1:p.Leu863=
NM_198253.3:c.2589C>T MANE Select	NP_937983.2:p.Leu863=
NR_149162.2:n.2486C>T
NR_149163.2:n.2450C>T
NM_001193376.3:c.2589C>T	NP_001180305.1:p.Leu863=
NR_149162.3:n.2486C>T
NR_149163.3:n.2450C>T