Canonical Allele Identifier: CA3184349

Gene: TERT

Linked Data

• ClinVar Variation Id: 350593
• ClinVar RCV Id: RCV000283455 ; RCV000319818 ; RCV000374647 ; RCV002436210 ; RCV002523499
• dbSNP Id: rs542440625
• ExAC: 5:1260673 G / A
• gnomAD v2: 5-1260673-G-A
• gnomAD v3: 5-1260558-G-A
• gnomAD v4: 5-1260558-G-A
• MyVariant Identifiers: chr5:g.1260673G>A (hg19) ; chr5:g.1260558G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1260558G>A , CM000667.2:g.1260558G>A	GRCh38
NC_000005.9:g.1260673G>A , CM000667.1:g.1260673G>A	GRCh37
NC_000005.8:g.1313673G>A	NCBI36
NG_009265.1:g.39490C>T , LRG_343:g.39490C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310581.10:c.2886C>T MANE Select	ENSP00000309572.5:p.Arg962=
ENST00000656021.1:c.*2432C>T	ENSP00000499759.1:n.*2432C>T
ENST00000667927.1:n.174C>T
ENST00000310581.9:c.2886C>T	ENSP00000309572.5:p.Arg962=
ENST00000334602.10:c.2697C>T	ENSP00000334346.6:p.Arg899=
ENST00000460137.6:c.2479C>T	ENSP00000425003.1:n.2479C>T
ENST00000484238.6:n.1328C>T
NM_001193376.1:c.2697C>T	NP_001180305.1:p.Arg899=
NM_198253.2:c.2886C>T , LRG_343t1:c.2886C>T	NP_937983.2:p.Arg962=
XM_011514104.1:c.1356C>T	XP_011512406.1:p.Arg452=
XM_011514105.1:c.1242C>T	XP_011512407.1:p.Arg414=
XM_011514106.1:c.1242C>T	XP_011512408.1:p.Arg414=
NR_149162.1:n.2573C>T
NR_149163.1:n.2537C>T
NM_001193376.2:c.2697C>T	NP_001180305.1:p.Arg899=
NM_198253.3:c.2886C>T MANE Select	NP_937983.2:p.Arg962=
NR_149162.2:n.2594C>T
NR_149163.2:n.2558C>T
NM_001193376.3:c.2697C>T	NP_001180305.1:p.Arg899=
NR_149162.3:n.2594C>T
NR_149163.3:n.2558C>T