Canonical Allele Identifier: CA359057233
Community Standard Title: NM_198253.3(TERT):c.598G>T (p.Glu200Ter)
Gene: TERT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1294288C>A , CM000667.2:g.1294288C>A GRCh38
NC_000005.9:g.1294403C>A , CM000667.1:g.1294403C>A GRCh37
NC_000005.8:g.1347403C>A NCBI36
NG_009265.1:g.5760G>T , LRG_343:g.5760G>T

Transcript Alleles

HGVS Amino-acid Change
NM_198253.3:c.598G>T MANE Select NP_937983.2:p.Glu200Ter
ENST00000310581.10:c.598G>T MANE Select ENSP00000309572.5:p.Glu200Ter
NM_001193376.1:c.598G>T NP_001180305.1:p.Glu200Ter
NM_001193376.2:c.598G>T NP_001180305.1:p.Glu200Ter
NM_001193376.3:c.598G>T NP_001180305.1:p.Glu200Ter
NM_198253.2:c.598G>T , LRG_343t1:c.598G>T NP_937983.2:p.Glu200Ter
NR_149162.1:n.656G>T
NR_149162.2:n.677G>T
NR_149162.3:n.677G>T
NR_149163.1:n.656G>T
NR_149163.2:n.677G>T
NR_149163.3:n.677G>T
ENST00000310581.9:c.598G>T ENSP00000309572.5:p.Glu200Ter
ENST00000334602.10:c.598G>T ENSP00000334346.6:p.Glu200Ter
ENST00000460137.6:c.598G>T ENSP00000425003.1:p.Glu200Ter
ENST00000508104.2:c.598G>T ENSP00000426042.2:p.Glu200Ter
ENST00000656021.1:c.598G>T ENSP00000499759.1:p.Glu200Ter