Canonical Allele Identifier: CA359068353

Gene: TERT

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1255400C>G , CM000667.2:g.1255400C>G	GRCh38
NC_000005.9:g.1255515C>G , CM000667.1:g.1255515C>G	GRCh37
NC_000005.8:g.1308515C>G	NCBI36
NG_009265.1:g.44648G>C , LRG_343:g.44648G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_198253.3:c.3044G>C MANE Select	NP_937983.2:p.Cys1015Ser
ENST00000310581.10:c.3044G>C MANE Select	ENSP00000309572.5:p.Cys1015Ser
NM_001193376.1:c.2855G>C	NP_001180305.1:p.Cys952Ser
NM_001193376.2:c.2855G>C	NP_001180305.1:p.Cys952Ser
NM_001193376.3:c.2855G>C	NP_001180305.1:p.Cys952Ser
NM_198253.2:c.3044G>C , LRG_343t1:c.3044G>C	NP_937983.2:p.Cys1015Ser
NR_149162.1:n.2731G>C
NR_149162.2:n.2752G>C
NR_149162.3:n.2752G>C
NR_149163.1:n.2695G>C
NR_149163.2:n.2716G>C
NR_149163.3:n.2716G>C
ENST00000310581.9:c.3044G>C	ENSP00000309572.5:p.Cys1015Ser
ENST00000334602.10:c.2855G>C	ENSP00000334346.6:p.Cys952Ser
ENST00000460137.6:c.2637G>C	ENSP00000425003.1:n.2637G>C
ENST00000484238.6:n.1486G>C
ENST00000656021.1:c.*2590G>C	ENSP00000499759.1:n.*2590G>C
ENST00000667927.1:n.332G>C
XM_011514104.1:c.1514G>C	XP_011512406.1:p.Cys505Ser
XM_011514105.1:c.1400G>C	XP_011512407.1:p.Cys467Ser
XM_011514106.1:c.1400G>C	XP_011512408.1:p.Cys467Ser