Canonical Allele Identifier: CA359073196

Gene: TERT

Linked Data

• ClinVar Variation Id: 1794001
• ClinVar RCV Id: RCV002426438
• dbSNP Id: rs1483412488
• gnomAD v3: 5-1266492-G-A
• gnomAD v4: 5-1266492-G-A
• MyVariant Identifiers: chr5:g.1266607G>A (hg19) ; chr5:g.1266492G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1266492G>A , CM000667.2:g.1266492G>A	GRCh38
NC_000005.9:g.1266607G>A , CM000667.1:g.1266607G>A	GRCh37
NC_000005.8:g.1319607G>A	NCBI36
NG_009265.1:g.33556C>T , LRG_343:g.33556C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310581.10:c.2626C>T MANE Select	ENSP00000309572.5:p.His876Tyr
ENST00000656021.1:c.*2172C>T	ENSP00000499759.1:n.*2172C>T
ENST00000310581.9:c.2626C>T	ENSP00000309572.5:p.His876Tyr
ENST00000334602.10:c.2626C>T	ENSP00000334346.6:p.His876Tyr
ENST00000460137.6:c.2408C>T	ENSP00000425003.1:n.2408C>T
ENST00000484238.6:n.1257C>T
ENST00000503656.1:n.33C>T
ENST00000508104.2:c.2444C>T	ENSP00000426042.2:n.2444C>T
NM_001193376.1:c.2626C>T	NP_001180305.1:p.His876Tyr
NM_198253.2:c.2626C>T , LRG_343t1:c.2626C>T	NP_937983.2:p.His876Tyr
XM_011514104.1:c.1096C>T	XP_011512406.1:p.His366Tyr
XM_011514105.1:c.982C>T	XP_011512407.1:p.His328Tyr
XM_011514106.1:c.982C>T	XP_011512408.1:p.His328Tyr
NR_149162.1:n.2502C>T
NR_149163.1:n.2466C>T
NM_001193376.2:c.2626C>T	NP_001180305.1:p.His876Tyr
NM_198253.3:c.2626C>T MANE Select	NP_937983.2:p.His876Tyr
NR_149162.2:n.2523C>T
NR_149163.2:n.2487C>T
NM_001193376.3:c.2626C>T	NP_001180305.1:p.His876Tyr
NR_149162.3:n.2523C>T
NR_149163.3:n.2487C>T