Canonical Allele Identifier: CA1522534166
Community Standard Title: NM_198253.3(TERT):c.3268G= (p.Val1090=)
Gene: TERT HGNC NCBI

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
NM_198253.3:c.3268G= MANE Select NP_937983.2:p.Val1090=
ENST00000310581.10:c.3268G= MANE Select ENSP00000309572.5:p.Val1090=
NM_001193376.1:c.3079G= NP_001180305.1:p.Val1027=
NM_001193376.2:c.3079G= NP_001180305.1:p.Val1027=
NM_001193376.3:c.3079G= NP_001180305.1:p.Val1027=
NM_198253.2:c.3268G= , LRG_343t1:c.3268G= NP_937983.2:p.Val1090=
NR_149162.1:n.2955G=
NR_149162.2:n.2976G=
NR_149162.3:n.2976G=
NR_149163.1:n.2919G=
NR_149163.2:n.2940G=
NR_149163.3:n.2940G=
ENST00000310581.9:c.3268G= ENSP00000309572.5:p.Val1090=
ENST00000334602.10:c.3079G= ENSP00000334346.6:p.Val1027=
ENST00000460137.6:c.2861G= ENSP00000425003.1:n.2861G=
ENST00000484238.6:n.1710G=
ENST00000656021.1:c.*2814G= ENSP00000499759.1:n.*2814G=
XM_011514104.1:c.1738G= XP_011512406.1:p.Val580=
XM_011514105.1:c.1624G= XP_011512407.1:p.Val542=
XM_011514106.1:c.1624G= XP_011512408.1:p.Val542=
XR_925683.1:n.287-279C=