Canonical Allele Identifier: CA128724

Gene: TERT

Linked Data

• ClinVar Variation Id: 29899
• ClinVar RCV Id: RCV002408477 ; RCV002509167 ; RCV002513175 ; RCV003150932 ; RCV003325404
• dbSNP Id: rs199422294
• MyVariant Identifiers: chr5:g.1280331C>T (hg19) ; chr5:g.1280216C>T (hg38)
• PubMed: PMID:18460650 ; PMID:20301779

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1280216C>T , CM000667.2:g.1280216C>T	GRCh38
NC_000005.9:g.1280331C>T , CM000667.1:g.1280331C>T	GRCh37
NC_000005.8:g.1333331C>T	NCBI36
NG_009265.1:g.19832G>A , LRG_343:g.19832G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000310581.10:c.1892G>A MANE Select	ENSP00000309572.5:p.Arg631Gln
ENST00000656021.1:c.*1438G>A	ENSP00000499759.1:n.*1438G>A
ENST00000310581.9:c.1892G>A	ENSP00000309572.5:p.Arg631Gln
ENST00000334602.10:c.1892G>A	ENSP00000334346.6:p.Arg631Gln
ENST00000460137.6:c.1892G>A	ENSP00000425003.1:p.Arg631Gln
ENST00000484238.6:n.705G>A
ENST00000508104.2:c.1892G>A	ENSP00000426042.2:p.Arg631Gln
NM_001193376.1:c.1892G>A	NP_001180305.1:p.Arg631Gln
NM_198253.2:c.1892G>A , LRG_343t1:c.1892G>A	NP_937983.2:p.Arg631Gln
XM_011514104.1:c.362G>A	XP_011512406.1:p.Arg121Gln
XM_011514105.1:c.248G>A	XP_011512407.1:p.Arg83Gln
XM_011514106.1:c.248G>A	XP_011512408.1:p.Arg83Gln
NR_149162.1:n.1950G>A
NR_149163.1:n.1950G>A
NM_001193376.2:c.1892G>A	NP_001180305.1:p.Arg631Gln
NM_198253.3:c.1892G>A MANE Select	NP_937983.2:p.Arg631Gln
NR_149162.2:n.1971G>A
NR_149163.2:n.1971G>A
NM_001193376.3:c.1892G>A	NP_001180305.1:p.Arg631Gln
NR_149162.3:n.1971G>A
NR_149163.3:n.1971G>A