Canonical Allele Identifier: CA359080227

Gene: TERT

Linked Data

• gnomAD v4: 5-1279351-C-A
• MyVariant Identifiers: chr5:g.1279466C>A (hg19) ; chr5:g.1279351C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1279351C>A , CM000667.2:g.1279351C>A	GRCh38
NC_000005.9:g.1279466C>A , CM000667.1:g.1279466C>A	GRCh37
NC_000005.8:g.1332466C>A	NCBI36
NG_009265.1:g.20697G>T , LRG_343:g.20697G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000310581.10:c.2070G>T MANE Select	ENSP00000309572.5:p.Trp690Cys
ENST00000656021.1:c.*1616G>T	ENSP00000499759.1:n.*1616G>T
ENST00000310581.9:c.2070G>T	ENSP00000309572.5:p.Trp690Cys
ENST00000334602.10:c.2070G>T	ENSP00000334346.6:p.Trp690Cys
ENST00000460137.6:c.2070G>T	ENSP00000425003.1:p.Trp690Cys
ENST00000484238.6:n.883G>T
ENST00000508104.2:c.2070G>T	ENSP00000426042.2:p.Trp690Cys
NM_001193376.1:c.2070G>T	NP_001180305.1:p.Trp690Cys
NM_198253.2:c.2070G>T , LRG_343t1:c.2070G>T	NP_937983.2:p.Trp690Cys
XM_011514104.1:c.540G>T	XP_011512406.1:p.Trp180Cys
XM_011514105.1:c.426G>T	XP_011512407.1:p.Trp142Cys
XM_011514106.1:c.426G>T	XP_011512408.1:p.Trp142Cys
NR_149162.1:n.2128G>T
NR_149163.1:n.2128G>T
NM_001193376.2:c.2070G>T	NP_001180305.1:p.Trp690Cys
NM_198253.3:c.2070G>T MANE Select	NP_937983.2:p.Trp690Cys
NR_149162.2:n.2149G>T
NR_149163.2:n.2149G>T
NM_001193376.3:c.2070G>T	NP_001180305.1:p.Trp690Cys
NR_149162.3:n.2149G>T
NR_149163.3:n.2149G>T