Canonical Allele Identifier: CA359069957

Gene: TERT

Linked Data

• ClinVar Variation Id: 653306
• ClinVar RCV Id: RCV003103843
• dbSNP Id: rs1278994586
• gnomAD v2: 5-1260644-C-T
• gnomAD v3: 5-1260529-C-T
• gnomAD v4: 5-1260529-C-T
• COSMIC: COSM3135580 ; COSM3135581
• MyVariant Identifiers: chr5:g.1260644C>T (hg19) ; chr5:g.1260529C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1260529C>T , CM000667.2:g.1260529C>T	GRCh38
NC_000005.9:g.1260644C>T , CM000667.1:g.1260644C>T	GRCh37
NC_000005.8:g.1313644C>T	NCBI36
NG_009265.1:g.39519G>A , LRG_343:g.39519G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310581.10:c.2915G>A MANE Select	ENSP00000309572.5:p.Arg972His
ENST00000656021.1:c.*2461G>A	ENSP00000499759.1:n.*2461G>A
ENST00000667927.1:n.203G>A
ENST00000310581.9:c.2915G>A	ENSP00000309572.5:p.Arg972His
ENST00000334602.10:c.2726G>A	ENSP00000334346.6:p.Arg909His
ENST00000460137.6:c.2508G>A	ENSP00000425003.1:n.2508G>A
ENST00000484238.6:n.1357G>A
NM_001193376.1:c.2726G>A	NP_001180305.1:p.Arg909His
NM_198253.2:c.2915G>A , LRG_343t1:c.2915G>A	NP_937983.2:p.Arg972His
XM_011514104.1:c.1385G>A	XP_011512406.1:p.Arg462His
XM_011514105.1:c.1271G>A	XP_011512407.1:p.Arg424His
XM_011514106.1:c.1271G>A	XP_011512408.1:p.Arg424His
NR_149162.1:n.2602G>A
NR_149163.1:n.2566G>A
NM_001193376.2:c.2726G>A	NP_001180305.1:p.Arg909His
NM_198253.3:c.2915G>A MANE Select	NP_937983.2:p.Arg972His
NR_149162.2:n.2623G>A
NR_149163.2:n.2587G>A
NM_001193376.3:c.2726G>A	NP_001180305.1:p.Arg909His
NR_149162.3:n.2623G>A
NR_149163.3:n.2587G>A