Canonical Allele Identifier: CA359080169
Community Standard Title: NM_198253.3(TERT):c.2081T>A (p.Val694Glu)
Gene: TERT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1279340A>T , CM000667.2:g.1279340A>T GRCh38
NC_000005.9:g.1279455A>T , CM000667.1:g.1279455A>T GRCh37
NC_000005.8:g.1332455A>T NCBI36
NG_009265.1:g.20708T>A , LRG_343:g.20708T>A

Transcript Alleles

HGVS Amino-acid Change
NM_198253.3:c.2081T>A MANE Select NP_937983.2:p.Val694Glu
ENST00000310581.10:c.2081T>A MANE Select ENSP00000309572.5:p.Val694Glu
NM_001193376.1:c.2081T>A NP_001180305.1:p.Val694Glu
NM_001193376.2:c.2081T>A NP_001180305.1:p.Val694Glu
NM_001193376.3:c.2081T>A NP_001180305.1:p.Val694Glu
NM_198253.2:c.2081T>A , LRG_343t1:c.2081T>A NP_937983.2:p.Val694Glu
NR_149162.1:n.2139T>A
NR_149162.2:n.2160T>A
NR_149162.3:n.2160T>A
NR_149163.1:n.2139T>A
NR_149163.2:n.2160T>A
NR_149163.3:n.2160T>A
ENST00000310581.9:c.2081T>A ENSP00000309572.5:p.Val694Glu
ENST00000334602.10:c.2081T>A ENSP00000334346.6:p.Val694Glu
ENST00000460137.6:c.2081T>A ENSP00000425003.1:p.Val694Glu
ENST00000484238.6:n.894T>A
ENST00000508104.2:c.2081T>A ENSP00000426042.2:p.Val694Glu
ENST00000656021.1:c.*1627T>A ENSP00000499759.1:n.*1627T>A
XM_011514104.1:c.551T>A XP_011512406.1:p.Val184Glu
XM_011514105.1:c.437T>A XP_011512407.1:p.Val146Glu
XM_011514106.1:c.437T>A XP_011512408.1:p.Val146Glu