Canonical Allele Identifier: CA359079671

Gene: TERT

Linked Data

• MyVariant Identifiers: chr5:g.1278892T>A (hg19) ; chr5:g.1278777T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1278777T>A , CM000667.2:g.1278777T>A	GRCh38
NC_000005.9:g.1278892T>A , CM000667.1:g.1278892T>A	GRCh37
NC_000005.8:g.1331892T>A	NCBI36
NG_009265.1:g.21271A>T , LRG_343:g.21271A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000310581.10:c.2150A>T MANE Select	ENSP00000309572.5:p.Tyr717Phe
ENST00000656021.1:c.*1696A>T	ENSP00000499759.1:n.*1696A>T
ENST00000310581.9:c.2150A>T	ENSP00000309572.5:p.Tyr717Phe
ENST00000334602.10:c.2150A>T	ENSP00000334346.6:p.Tyr717Phe
ENST00000460137.6:c.2131-17A>T	ENSP00000425003.1:n.2131-17A>T
ENST00000484238.6:n.963A>T
ENST00000508104.2:c.2150A>T	ENSP00000426042.2:p.Tyr717Phe
NM_001193376.1:c.2150A>T	NP_001180305.1:p.Tyr717Phe
NM_198253.2:c.2150A>T , LRG_343t1:c.2150A>T	NP_937983.2:p.Tyr717Phe
XM_011514104.1:c.620A>T	XP_011512406.1:p.Tyr207Phe
XM_011514105.1:c.506A>T	XP_011512407.1:p.Tyr169Phe
XM_011514106.1:c.506A>T	XP_011512408.1:p.Tyr169Phe
NR_149162.1:n.2208A>T
NR_149163.1:n.2189-17A>T
NM_001193376.2:c.2150A>T	NP_001180305.1:p.Tyr717Phe
NM_198253.3:c.2150A>T MANE Select	NP_937983.2:p.Tyr717Phe
NR_149162.2:n.2229A>T
NR_149163.2:n.2210-17A>T
NM_001193376.3:c.2150A>T	NP_001180305.1:p.Tyr717Phe
NR_149162.3:n.2229A>T
NR_149163.3:n.2210-17A>T