Canonical Allele Identifier: CA3184643

Gene: TERT

Linked Data

• ClinVar Variation Id: 539258
• ClinVar RCV Id: RCV001816617 ; RCV002248843 ; RCV002257903 ; RCV002424501 ; RCV002530523 ; RCV004544888
• dbSNP Id: rs775722062
• ExAC: 5:1278903 C / T
• gnomAD v2: 5-1278903-C-T
• gnomAD v3: 5-1278788-C-T
• gnomAD v4: 5-1278788-C-T
• MyVariant Identifiers: chr5:g.1278903C>T (hg19) ; chr5:g.1278788C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1278788C>T , CM000667.2:g.1278788C>T	GRCh38
NC_000005.9:g.1278903C>T , CM000667.1:g.1278903C>T	GRCh37
NC_000005.8:g.1331903C>T	NCBI36
NG_009265.1:g.21260G>A , LRG_343:g.21260G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310581.10:c.2139G>A MANE Select	ENSP00000309572.5:p.Val713=
ENST00000656021.1:c.*1685G>A	ENSP00000499759.1:n.*1685G>A
ENST00000310581.9:c.2139G>A	ENSP00000309572.5:p.Val713=
ENST00000334602.10:c.2139G>A	ENSP00000334346.6:p.Val713=
ENST00000460137.6:c.2131-28G>A	ENSP00000425003.1:n.2131-28G>A
ENST00000484238.6:n.952G>A
ENST00000508104.2:c.2139G>A	ENSP00000426042.2:p.Val713=
NM_001193376.1:c.2139G>A	NP_001180305.1:p.Val713=
NM_198253.2:c.2139G>A , LRG_343t1:c.2139G>A	NP_937983.2:p.Val713=
XM_011514104.1:c.609G>A	XP_011512406.1:p.Val203=
XM_011514105.1:c.495G>A	XP_011512407.1:p.Val165=
XM_011514106.1:c.495G>A	XP_011512408.1:p.Val165=
NR_149162.1:n.2197G>A
NR_149163.1:n.2189-28G>A
NM_001193376.2:c.2139G>A	NP_001180305.1:p.Val713=
NM_198253.3:c.2139G>A MANE Select	NP_937983.2:p.Val713=
NR_149162.2:n.2218G>A
NR_149163.2:n.2210-28G>A
NM_001193376.3:c.2139G>A	NP_001180305.1:p.Val713=
NR_149162.3:n.2218G>A
NR_149163.3:n.2210-28G>A