Canonical Allele Identifier: CA3184515
Community Standard Title: NM_198253.3(TERT):c.2451C>T (p.Ala817=)
Gene: TERT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1271136G>A , CM000667.2:g.1271136G>A GRCh38
NC_000005.9:g.1271251G>A , CM000667.1:g.1271251G>A GRCh37
NC_000005.8:g.1324251G>A NCBI36
NG_009265.1:g.28912C>T , LRG_343:g.28912C>T

Transcript Alleles

HGVS Amino-acid Change
NM_198253.3:c.2451C>T MANE Select NP_937983.2:p.Ala817=
ENST00000310581.10:c.2451C>T MANE Select ENSP00000309572.5:p.Ala817=
NM_001193376.1:c.2451C>T NP_001180305.1:p.Ala817=
NM_001193376.2:c.2451C>T NP_001180305.1:p.Ala817=
NM_001193376.3:c.2451C>T NP_001180305.1:p.Ala817=
NM_198253.2:c.2451C>T , LRG_343t1:c.2451C>T NP_937983.2:p.Ala817=
NR_149162.1:n.2345-2503C>T
NR_149162.2:n.2366-2503C>T
NR_149162.3:n.2366-2503C>T
NR_149163.1:n.2309-2503C>T
NR_149163.2:n.2330-2503C>T
NR_149163.3:n.2330-2503C>T
ENST00000310581.9:c.2451C>T ENSP00000309572.5:p.Ala817=
ENST00000334602.10:c.2451C>T ENSP00000334346.6:p.Ala817=
ENST00000460137.6:c.2251-2503C>T ENSP00000425003.1:n.2251-2503C>T
ENST00000484238.6:n.1100-2503C>T
ENST00000508104.2:c.2287-2503C>T ENSP00000426042.2:n.2287-2503C>T
ENST00000656021.1:c.*1997C>T ENSP00000499759.1:n.*1997C>T
XM_011514104.1:c.921C>T XP_011512406.1:p.Ala307=
XM_011514105.1:c.807C>T XP_011512407.1:p.Ala269=
XM_011514106.1:c.807C>T XP_011512408.1:p.Ala269=