Canonical Allele Identifier: CA3184244
Community Standard Title: NM_198253.3(TERT):c.3251G>A (p.Arg1084Gln)
Gene: TERT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1254412C>T , CM000667.2:g.1254412C>T GRCh38
NC_000005.9:g.1254527C>T , CM000667.1:g.1254527C>T GRCh37
NC_000005.8:g.1307527C>T NCBI36
NG_009265.1:g.45636G>A , LRG_343:g.45636G>A

Transcript Alleles

HGVS Amino-acid Change
NM_198253.3:c.3251G>A MANE Select NP_937983.2:p.Arg1084Gln
ENST00000310581.10:c.3251G>A MANE Select ENSP00000309572.5:p.Arg1084Gln
NM_001193376.1:c.3062G>A NP_001180305.1:p.Arg1021Gln
NM_001193376.2:c.3062G>A NP_001180305.1:p.Arg1021Gln
NM_001193376.3:c.3062G>A NP_001180305.1:p.Arg1021Gln
NM_198253.2:c.3251G>A , LRG_343t1:c.3251G>A NP_937983.2:p.Arg1084Gln
NR_149162.1:n.2938G>A
NR_149162.2:n.2959G>A
NR_149162.3:n.2959G>A
NR_149163.1:n.2902G>A
NR_149163.2:n.2923G>A
NR_149163.3:n.2923G>A
ENST00000310581.9:c.3251G>A ENSP00000309572.5:p.Arg1084Gln
ENST00000334602.10:c.3062G>A ENSP00000334346.6:p.Arg1021Gln
ENST00000460137.6:c.2844G>A ENSP00000425003.1:n.2844G>A
ENST00000484238.6:n.1693G>A
ENST00000656021.1:c.*2797G>A ENSP00000499759.1:n.*2797G>A
XM_011514104.1:c.1721G>A XP_011512406.1:p.Arg574Gln
XM_011514105.1:c.1607G>A XP_011512407.1:p.Arg536Gln
XM_011514106.1:c.1607G>A XP_011512408.1:p.Arg536Gln
XR_925683.1:n.287-262C>T