Canonical Allele Identifier: CA359073263

Gene: TERT

Linked Data

• ClinVar Variation Id: 947555
• ClinVar RCV Id: RCV002562987
• dbSNP Id: rs1748617474
• MyVariant Identifiers: chr5:g.1266628C>A (hg19) ; chr5:g.1266513C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1266513C>A , CM000667.2:g.1266513C>A	GRCh38
NC_000005.9:g.1266628C>A , CM000667.1:g.1266628C>A	GRCh37
NC_000005.8:g.1319628C>A	NCBI36
NG_009265.1:g.33535G>T , LRG_343:g.33535G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310581.10:c.2605G>T MANE Select	ENSP00000309572.5:p.Asp869Tyr
ENST00000656021.1:c.*2151G>T	ENSP00000499759.1:n.*2151G>T
ENST00000310581.9:c.2605G>T	ENSP00000309572.5:p.Asp869Tyr
ENST00000334602.10:c.2605G>T	ENSP00000334346.6:p.Asp869Tyr
ENST00000460137.6:c.2387G>T	ENSP00000425003.1:p.Ter796Leu
ENST00000484238.6:n.1236G>T
ENST00000503656.1:n.12G>T
ENST00000508104.2:c.2423G>T	ENSP00000426042.2:p.Ter808Leu
NM_001193376.1:c.2605G>T	NP_001180305.1:p.Asp869Tyr
NM_198253.2:c.2605G>T , LRG_343t1:c.2605G>T	NP_937983.2:p.Asp869Tyr
XM_011514104.1:c.1075G>T	XP_011512406.1:p.Asp359Tyr
XM_011514105.1:c.961G>T	XP_011512407.1:p.Asp321Tyr
XM_011514106.1:c.961G>T	XP_011512408.1:p.Asp321Tyr
NR_149162.1:n.2481G>T
NR_149163.1:n.2445G>T
NM_001193376.2:c.2605G>T	NP_001180305.1:p.Asp869Tyr
NM_198253.3:c.2605G>T MANE Select	NP_937983.2:p.Asp869Tyr
NR_149162.2:n.2502G>T
NR_149163.2:n.2466G>T
NM_001193376.3:c.2605G>T	NP_001180305.1:p.Asp869Tyr
NR_149162.3:n.2502G>T
NR_149163.3:n.2466G>T