Canonical Allele Identifier: CA359079999

Gene: TERT

Linked Data

• ClinVar Variation Id: 2679139
• ClinVar RCV Id: RCV003464687
• MyVariant Identifiers: chr5:g.1279416T>C (hg19) ; chr5:g.1279301T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1279301T>C , CM000667.2:g.1279301T>C	GRCh38
NC_000005.9:g.1279416T>C , CM000667.1:g.1279416T>C	GRCh37
NC_000005.8:g.1332416T>C	NCBI36
NG_009265.1:g.20747A>G , LRG_343:g.20747A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000310581.10:c.2120A>G MANE Select	ENSP00000309572.5:p.Tyr707Cys
ENST00000656021.1:c.*1666A>G	ENSP00000499759.1:n.*1666A>G
ENST00000310581.9:c.2120A>G	ENSP00000309572.5:p.Tyr707Cys
ENST00000334602.10:c.2120A>G	ENSP00000334346.6:p.Tyr707Cys
ENST00000460137.6:c.2120A>G	ENSP00000425003.1:p.Tyr707Cys
ENST00000484238.6:n.933A>G
ENST00000508104.2:c.2120A>G	ENSP00000426042.2:p.Tyr707Cys
NM_001193376.1:c.2120A>G	NP_001180305.1:p.Tyr707Cys
NM_198253.2:c.2120A>G , LRG_343t1:c.2120A>G	NP_937983.2:p.Tyr707Cys
XM_011514104.1:c.590A>G	XP_011512406.1:p.Tyr197Cys
XM_011514105.1:c.476A>G	XP_011512407.1:p.Tyr159Cys
XM_011514106.1:c.476A>G	XP_011512408.1:p.Tyr159Cys
NR_149162.1:n.2178A>G
NR_149163.1:n.2178A>G
NM_001193376.2:c.2120A>G	NP_001180305.1:p.Tyr707Cys
NM_198253.3:c.2120A>G MANE Select	NP_937983.2:p.Tyr707Cys
NR_149162.2:n.2199A>G
NR_149163.2:n.2199A>G
NM_001193376.3:c.2120A>G	NP_001180305.1:p.Tyr707Cys
NR_149162.3:n.2199A>G
NR_149163.3:n.2199A>G