Canonical Allele Identifier: CA122661
Gene: TERT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1254395C>T , CM000667.2:g.1254395C>T GRCh38
NC_000005.9:g.1254510C>T , CM000667.1:g.1254510C>T GRCh37
NC_000005.8:g.1307510C>T NCBI36
NG_009265.1:g.45653G>A , LRG_343:g.45653G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000310581.10:c.3268G>A MANE Select ENSP00000309572.5:p.Val1090Met
ENST00000656021.1:c.*2814G>A ENSP00000499759.1:n.*2814G>A
ENST00000310581.9:c.3268G>A ENSP00000309572.5:p.Val1090Met
ENST00000334602.10:c.3079G>A ENSP00000334346.6:p.Val1027Met
ENST00000460137.6:c.2861G>A ENSP00000425003.1:n.2861G>A
ENST00000484238.6:n.1710G>A
NM_001193376.1:c.3079G>A NP_001180305.1:p.Val1027Met
NM_198253.2:c.3268G>A , LRG_343t1:c.3268G>A NP_937983.2:p.Val1090Met
XM_011514104.1:c.1738G>A XP_011512406.1:p.Val580Met
XM_011514105.1:c.1624G>A XP_011512407.1:p.Val542Met
XM_011514106.1:c.1624G>A XP_011512408.1:p.Val542Met
XR_925683.1:n.287-279C>T
NR_149162.1:n.2955G>A
NR_149163.1:n.2919G>A
NM_001193376.2:c.3079G>A NP_001180305.1:p.Val1027Met
NM_198253.3:c.3268G>A MANE Select NP_937983.2:p.Val1090Met
NR_149162.2:n.2976G>A
NR_149163.2:n.2940G>A
NM_001193376.3:c.3079G>A NP_001180305.1:p.Val1027Met
NR_149162.3:n.2976G>A
NR_149163.3:n.2940G>A