Canonical Allele Identifier: CA3184390

Gene: TERT

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1264434C>T , CM000667.2:g.1264434C>T	GRCh38
NC_000005.9:g.1264549C>T , CM000667.1:g.1264549C>T	GRCh37
NC_000005.8:g.1317549C>T	NCBI36
NG_009265.1:g.35614G>A , LRG_343:g.35614G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_198253.3:c.2813G>A MANE Select	NP_937983.2:p.Arg938Gln
ENST00000310581.10:c.2813G>A MANE Select	ENSP00000309572.5:p.Arg938Gln
NM_001193376.1:c.2654+2030G>A	NP_001180305.1:n.2654+2030G>A
NM_001193376.2:c.2654+2030G>A	NP_001180305.1:n.2654+2030G>A
NM_001193376.3:c.2654+2030G>A	NP_001180305.1:n.2654+2030G>A
NM_198253.2:c.2813G>A , LRG_343t1:c.2813G>A	NP_937983.2:p.Arg938Gln
NR_149162.1:n.2530+2030G>A
NR_149162.2:n.2551+2030G>A
NR_149162.3:n.2551+2030G>A
NR_149163.1:n.2494+2030G>A
NR_149163.2:n.2515+2030G>A
NR_149163.3:n.2515+2030G>A
ENST00000310581.9:c.2813G>A	ENSP00000309572.5:p.Arg938Gln
ENST00000334602.10:c.2654+2030G>A	ENSP00000334346.6:n.2654+2030G>A
ENST00000460137.6:c.2436+2030G>A	ENSP00000425003.1:n.2436+2030G>A
ENST00000484238.6:n.1285+2030G>A
ENST00000503656.1:n.220G>A
ENST00000656021.1:c.*2359G>A	ENSP00000499759.1:n.*2359G>A
ENST00000667927.1:n.101G>A
XM_011514104.1:c.1283G>A	XP_011512406.1:p.Arg428Gln
XM_011514105.1:c.1169G>A	XP_011512407.1:p.Arg390Gln
XM_011514106.1:c.1169G>A	XP_011512408.1:p.Arg390Gln