Canonical Allele Identifier: CA443024752

Gene: TERT

Linked Data

• ClinVar Variation Id: 750185
• ClinVar RCV Id: RCV002541547
• dbSNP Id: rs1205368239
• gnomAD v2: 5-1279463-G-A
• gnomAD v3: 5-1279348-G-A
• gnomAD v4: 5-1279348-G-A
• MyVariant Identifiers: chr5:g.1279463G>A (hg19) ; chr5:g.1279348G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1279348G>A , CM000667.2:g.1279348G>A	GRCh38
NC_000005.9:g.1279463G>A , CM000667.1:g.1279463G>A	GRCh37
NC_000005.8:g.1332463G>A	NCBI36
NG_009265.1:g.20700C>T , LRG_343:g.20700C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000310581.10:c.2073C>T MANE Select	ENSP00000309572.5:p.Arg691=
ENST00000656021.1:c.*1619C>T	ENSP00000499759.1:n.*1619C>T
ENST00000310581.9:c.2073C>T	ENSP00000309572.5:p.Arg691=
ENST00000334602.10:c.2073C>T	ENSP00000334346.6:p.Arg691=
ENST00000460137.6:c.2073C>T	ENSP00000425003.1:p.Arg691=
ENST00000484238.6:n.886C>T
ENST00000508104.2:c.2073C>T	ENSP00000426042.2:p.Arg691=
NM_001193376.1:c.2073C>T	NP_001180305.1:p.Arg691=
NM_198253.2:c.2073C>T , LRG_343t1:c.2073C>T	NP_937983.2:p.Arg691=
XM_011514104.1:c.543C>T	XP_011512406.1:p.Arg181=
XM_011514105.1:c.429C>T	XP_011512407.1:p.Arg143=
XM_011514106.1:c.429C>T	XP_011512408.1:p.Arg143=
NR_149162.1:n.2131C>T
NR_149163.1:n.2131C>T
NM_001193376.2:c.2073C>T	NP_001180305.1:p.Arg691=
NM_198253.3:c.2073C>T MANE Select	NP_937983.2:p.Arg691=
NR_149162.2:n.2152C>T
NR_149163.2:n.2152C>T
NM_001193376.3:c.2073C>T	NP_001180305.1:p.Arg691=
NR_149162.3:n.2152C>T
NR_149163.3:n.2152C>T