Canonical Allele Identifier: CA359069599

Gene: TERT

Linked Data

• MyVariant Identifiers: chr5:g.1260599A>C (hg19) ; chr5:g.1260484A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1260484A>C , CM000667.2:g.1260484A>C	GRCh38
NC_000005.9:g.1260599A>C , CM000667.1:g.1260599A>C	GRCh37
NC_000005.8:g.1313599A>C	NCBI36
NG_009265.1:g.39564T>G , LRG_343:g.39564T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310581.10:c.2960T>G MANE Select	ENSP00000309572.5:p.Leu987Arg
ENST00000656021.1:c.*2506T>G	ENSP00000499759.1:n.*2506T>G
ENST00000667927.1:n.248T>G
ENST00000310581.9:c.2960T>G	ENSP00000309572.5:p.Leu987Arg
ENST00000334602.10:c.2771T>G	ENSP00000334346.6:p.Leu924Arg
ENST00000460137.6:c.2553T>G	ENSP00000425003.1:n.2553T>G
ENST00000484238.6:n.1402T>G
NM_001193376.1:c.2771T>G	NP_001180305.1:p.Leu924Arg
NM_198253.2:c.2960T>G , LRG_343t1:c.2960T>G	NP_937983.2:p.Leu987Arg
XM_011514104.1:c.1430T>G	XP_011512406.1:p.Leu477Arg
XM_011514105.1:c.1316T>G	XP_011512407.1:p.Leu439Arg
XM_011514106.1:c.1316T>G	XP_011512408.1:p.Leu439Arg
NR_149162.1:n.2647T>G
NR_149163.1:n.2611T>G
NM_001193376.2:c.2771T>G	NP_001180305.1:p.Leu924Arg
NM_198253.3:c.2960T>G MANE Select	NP_937983.2:p.Leu987Arg
NR_149162.2:n.2668T>G
NR_149163.2:n.2632T>G
NM_001193376.3:c.2771T>G	NP_001180305.1:p.Leu924Arg
NR_149162.3:n.2668T>G
NR_149163.3:n.2632T>G