Canonical Allele Identifier: CA3184524

Gene: TERT

Linked Data

• ClinVar Variation Id: 350724
• ClinVar RCV Id: RCV000291722 ; RCV000328047 ; RCV000381346 ; RCV001821074 ; RCV002255373 ; RCV002520301 ; RCV001584066 ; RCV002450924
• dbSNP Id: rs377216965
• ExAC: 5:1271311 G / C
• gnomAD v2: 5-1271311-G-C
• gnomAD v3: 5-1271196-G-C
• gnomAD v4: 5-1271196-G-C
• MyVariant Identifiers: chr5:g.1271311G>C (hg19) ; chr5:g.1271196G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1271196G>C , CM000667.2:g.1271196G>C	GRCh38
NC_000005.9:g.1271311G>C , CM000667.1:g.1271311G>C	GRCh37
NC_000005.8:g.1324311G>C	NCBI36
NG_009265.1:g.28852C>G , LRG_343:g.28852C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310581.10:c.2391C>G MANE Select	ENSP00000309572.5:p.Ser797=
ENST00000656021.1:c.*1937C>G	ENSP00000499759.1:n.*1937C>G
ENST00000310581.9:c.2391C>G	ENSP00000309572.5:p.Ser797=
ENST00000334602.10:c.2391C>G	ENSP00000334346.6:p.Ser797=
ENST00000460137.6:c.2251-2563C>G	ENSP00000425003.1:n.2251-2563C>G
ENST00000484238.6:n.1100-2563C>G
ENST00000508104.2:c.2287-2563C>G	ENSP00000426042.2:n.2287-2563C>G
NM_001193376.1:c.2391C>G	NP_001180305.1:p.Ser797=
NM_198253.2:c.2391C>G , LRG_343t1:c.2391C>G	NP_937983.2:p.Ser797=
XM_011514104.1:c.861C>G	XP_011512406.1:p.Ser287=
XM_011514105.1:c.747C>G	XP_011512407.1:p.Ser249=
XM_011514106.1:c.747C>G	XP_011512408.1:p.Ser249=
NR_149162.1:n.2345-2563C>G
NR_149163.1:n.2309-2563C>G
NM_001193376.2:c.2391C>G	NP_001180305.1:p.Ser797=
NM_198253.3:c.2391C>G MANE Select	NP_937983.2:p.Ser797=
NR_149162.2:n.2366-2563C>G
NR_149163.2:n.2330-2563C>G
NM_001193376.3:c.2391C>G	NP_001180305.1:p.Ser797=
NR_149162.3:n.2366-2563C>G
NR_149163.3:n.2330-2563C>G