Canonical Allele Identifier: CA359068274

Gene: TERT

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1255371C>A , CM000667.2:g.1255371C>A	GRCh38
NC_000005.9:g.1255486C>A , CM000667.1:g.1255486C>A	GRCh37
NC_000005.8:g.1308486C>A	NCBI36
NG_009265.1:g.44677G>T , LRG_343:g.44677G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_198253.3:c.3073G>T MANE Select	NP_937983.2:p.Val1025Phe
ENST00000310581.10:c.3073G>T MANE Select	ENSP00000309572.5:p.Val1025Phe
NM_001193376.1:c.2884G>T	NP_001180305.1:p.Val962Phe
NM_001193376.2:c.2884G>T	NP_001180305.1:p.Val962Phe
NM_001193376.3:c.2884G>T	NP_001180305.1:p.Val962Phe
NM_198253.2:c.3073G>T , LRG_343t1:c.3073G>T	NP_937983.2:p.Val1025Phe
NR_149162.1:n.2760G>T
NR_149162.2:n.2781G>T
NR_149162.3:n.2781G>T
NR_149163.1:n.2724G>T
NR_149163.2:n.2745G>T
NR_149163.3:n.2745G>T
ENST00000310581.9:c.3073G>T	ENSP00000309572.5:p.Val1025Phe
ENST00000334602.10:c.2884G>T	ENSP00000334346.6:p.Val962Phe
ENST00000460137.6:c.2666G>T	ENSP00000425003.1:n.2666G>T
ENST00000484238.6:n.1515G>T
ENST00000656021.1:c.*2619G>T	ENSP00000499759.1:n.*2619G>T
ENST00000667927.1:n.361G>T
XM_011514104.1:c.1543G>T	XP_011512406.1:p.Val515Phe
XM_011514105.1:c.1429G>T	XP_011512407.1:p.Val477Phe
XM_011514106.1:c.1429G>T	XP_011512408.1:p.Val477Phe
XR_925683.1:n.412C>A