Canonical Allele Identifier: CA359083465
Community Standard Title: NM_198253.3(TERT):c.1612G>T (p.Glu538Ter)
Gene: TERT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1282586C>A , CM000667.2:g.1282586C>A GRCh38
NC_000005.9:g.1282701C>A , CM000667.1:g.1282701C>A GRCh37
NC_000005.8:g.1335701C>A NCBI36
NG_009265.1:g.17462G>T , LRG_343:g.17462G>T

Transcript Alleles

HGVS Amino-acid Change
NM_198253.3:c.1612G>T MANE Select NP_937983.2:p.Glu538Ter
ENST00000310581.10:c.1612G>T MANE Select ENSP00000309572.5:p.Glu538Ter
NM_001193376.1:c.1612G>T NP_001180305.1:p.Glu538Ter
NM_001193376.2:c.1612G>T NP_001180305.1:p.Glu538Ter
NM_001193376.3:c.1612G>T NP_001180305.1:p.Glu538Ter
NM_198253.2:c.1612G>T , LRG_343t1:c.1612G>T NP_937983.2:p.Glu538Ter
NR_149162.1:n.1670G>T
NR_149162.2:n.1691G>T
NR_149162.3:n.1691G>T
NR_149163.1:n.1670G>T
NR_149163.2:n.1691G>T
NR_149163.3:n.1691G>T
ENST00000310581.9:c.1612G>T ENSP00000309572.5:p.Glu538Ter
ENST00000334602.10:c.1612G>T ENSP00000334346.6:p.Glu538Ter
ENST00000460137.6:c.1612G>T ENSP00000425003.1:p.Glu538Ter
ENST00000484238.6:n.425G>T
ENST00000508104.2:c.1612G>T ENSP00000426042.2:p.Glu538Ter
ENST00000656021.1:c.*1158G>T ENSP00000499759.1:n.*1158G>T
XM_011514104.1:c.82G>T XP_011512406.1:p.Glu28Ter
XM_011514105.1:c.-33G>T XP_011512407.1:n.-33G>T
XM_011514106.1:c.-33G>T XP_011512408.1:n.-33G>T