Canonical Allele Identifier: CA443020699

Gene: TERT

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1258599T>G , CM000667.2:g.1258599T>G	GRCh38
NC_000005.9:g.1258714T>G , CM000667.1:g.1258714T>G	GRCh37
NC_000005.8:g.1311714T>G	NCBI36
NG_009265.1:g.41449A>C , LRG_343:g.41449A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_198253.3:c.3031A>C MANE Select	NP_937983.2:p.Arg1011=
ENST00000310581.10:c.3031A>C MANE Select	ENSP00000309572.5:p.Arg1011=
NM_001193376.1:c.2842A>C	NP_001180305.1:p.Arg948=
NM_001193376.2:c.2842A>C	NP_001180305.1:p.Arg948=
NM_001193376.3:c.2842A>C	NP_001180305.1:p.Arg948=
NM_198253.2:c.3031A>C , LRG_343t1:c.3031A>C	NP_937983.2:p.Arg1011=
NR_149162.1:n.2718A>C
NR_149162.2:n.2739A>C
NR_149162.3:n.2739A>C
NR_149163.1:n.2682A>C
NR_149163.2:n.2703A>C
NR_149163.3:n.2703A>C
ENST00000310581.9:c.3031A>C	ENSP00000309572.5:p.Arg1011=
ENST00000334602.10:c.2842A>C	ENSP00000334346.6:p.Arg948=
ENST00000460137.6:c.2624A>C	ENSP00000425003.1:n.2624A>C
ENST00000484238.6:n.1473A>C
ENST00000656021.1:c.*2577A>C	ENSP00000499759.1:n.*2577A>C
ENST00000667927.1:n.319A>C
XM_011514104.1:c.1501A>C	XP_011512406.1:p.Arg501=
XM_011514105.1:c.1387A>C	XP_011512407.1:p.Arg463=
XM_011514106.1:c.1387A>C	XP_011512408.1:p.Arg463=