Canonical Allele Identifier: CA359067406
Community Standard Title: NM_198253.3(TERT):c.3211C>T (p.Gln1071Ter)
Gene: TERT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1254452G>A , CM000667.2:g.1254452G>A GRCh38
NC_000005.9:g.1254567G>A , CM000667.1:g.1254567G>A GRCh37
NC_000005.8:g.1307567G>A NCBI36
NG_009265.1:g.45596C>T , LRG_343:g.45596C>T

Transcript Alleles

HGVS Amino-acid Change
NM_198253.3:c.3211C>T MANE Select NP_937983.2:p.Gln1071Ter
ENST00000310581.10:c.3211C>T MANE Select ENSP00000309572.5:p.Gln1071Ter
NM_001193376.1:c.3022C>T NP_001180305.1:p.Gln1008Ter
NM_001193376.2:c.3022C>T NP_001180305.1:p.Gln1008Ter
NM_001193376.3:c.3022C>T NP_001180305.1:p.Gln1008Ter
NM_198253.2:c.3211C>T , LRG_343t1:c.3211C>T NP_937983.2:p.Gln1071Ter
NR_149162.1:n.2898C>T
NR_149162.2:n.2919C>T
NR_149162.3:n.2919C>T
NR_149163.1:n.2862C>T
NR_149163.2:n.2883C>T
NR_149163.3:n.2883C>T
ENST00000310581.9:c.3211C>T ENSP00000309572.5:p.Gln1071Ter
ENST00000334602.10:c.3022C>T ENSP00000334346.6:p.Gln1008Ter
ENST00000460137.6:c.2804C>T ENSP00000425003.1:n.2804C>T
ENST00000484238.6:n.1653C>T
ENST00000656021.1:c.*2757C>T ENSP00000499759.1:n.*2757C>T
XM_011514104.1:c.1681C>T XP_011512406.1:p.Gln561Ter
XM_011514105.1:c.1567C>T XP_011512407.1:p.Gln523Ter
XM_011514106.1:c.1567C>T XP_011512408.1:p.Gln523Ter
XR_925683.1:n.287-222G>A