Canonical Allele Identifier: CA3184721

Gene: TERT

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1280169T>G , CM000667.2:g.1280169T>G	GRCh38
NC_000005.9:g.1280284T>G , CM000667.1:g.1280284T>G	GRCh37
NC_000005.8:g.1333284T>G	NCBI36
NG_009265.1:g.19879A>C , LRG_343:g.19879A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310581.10:c.1939A>C MANE Select	ENSP00000309572.5:p.Arg647=
ENST00000656021.1:c.*1485A>C	ENSP00000499759.1:n.*1485A>C
ENST00000310581.9:c.1939A>C	ENSP00000309572.5:p.Arg647=
ENST00000334602.10:c.1939A>C	ENSP00000334346.6:p.Arg647=
ENST00000460137.6:c.1939A>C	ENSP00000425003.1:p.Arg647=
ENST00000484238.6:n.752A>C
ENST00000508104.2:c.1939A>C	ENSP00000426042.2:p.Arg647=
NM_001193376.1:c.1939A>C	NP_001180305.1:p.Arg647=
NM_198253.2:c.1939A>C , LRG_343t1:c.1939A>C	NP_937983.2:p.Arg647=
XM_011514104.1:c.409A>C	XP_011512406.1:p.Arg137=
XM_011514105.1:c.295A>C	XP_011512407.1:p.Arg99=
XM_011514106.1:c.295A>C	XP_011512408.1:p.Arg99=
NR_149162.1:n.1997A>C
NR_149163.1:n.1997A>C
NM_001193376.2:c.1939A>C	NP_001180305.1:p.Arg647=
NM_198253.3:c.1939A>C MANE Select	NP_937983.2:p.Arg647=
NR_149162.2:n.2018A>C
NR_149163.2:n.2018A>C
NM_001193376.3:c.1939A>C	NP_001180305.1:p.Arg647=
NR_149162.3:n.2018A>C
NR_149163.3:n.2018A>C