Canonical Allele Identifier: CA112953808

Gene: TERT

Linked Data

• dbSNP Id: rs930460612
• gnomAD v3: 5-1286182-C-T
• gnomAD v4: 5-1286182-C-T
• MyVariant Identifiers: chr5:g.1286297C>T (hg19) ; chr5:g.1286182C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1286182C>T , CM000667.2:g.1286182C>T	GRCh38
NC_000005.9:g.1286297C>T , CM000667.1:g.1286297C>T	GRCh37
NC_000005.8:g.1339297C>T	NCBI36
NG_009265.1:g.13866G>A , LRG_343:g.13866G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310581.10:c.1574-3558G>A MANE Select	ENSP00000309572.5:n.1574-3558G>A
ENST00000656021.1:c.*1102G>A	ENSP00000499759.1:n.*1102G>A
ENST00000310581.9:c.1574-3558G>A	ENSP00000309572.5:n.1574-3558G>A
ENST00000334602.10:c.1574-3558G>A	ENSP00000334346.6:n.1574-3558G>A
ENST00000460137.6:c.1574-3558G>A	ENSP00000425003.1:n.1574-3558G>A
ENST00000508104.2:c.1574-3558G>A	ENSP00000426042.2:n.1574-3558G>A
NM_001193376.1:c.1574-3558G>A	NP_001180305.1:n.1574-3558G>A
NM_198253.2:c.1574-3558G>A , LRG_343t1:c.1574-3558G>A	NP_937983.2:n.1574-3558G>A
XM_011514104.1:c.26G>A	XP_011512406.1:p.Arg9Lys
XM_011514105.1:c.-130G>A	XP_011512407.1:n.-130G>A
NR_149162.1:n.1632-3558G>A
NR_149163.1:n.1632-3558G>A
NM_001193376.2:c.1574-3558G>A	NP_001180305.1:n.1574-3558G>A
NM_198253.3:c.1574-3558G>A MANE Select	NP_937983.2:n.1574-3558G>A
NR_149162.2:n.1653-3558G>A
NR_149163.2:n.1653-3558G>A
NM_001193376.3:c.1574-3558G>A	NP_001180305.1:n.1574-3558G>A
NR_149162.3:n.1653-3558G>A
NR_149163.3:n.1653-3558G>A