Canonical Allele Identifier: CA443021930

Gene: TERT

Linked Data

• ClinVar Variation Id: 2454083
• ClinVar RCV Id: RCV003188218
• MyVariant Identifiers: chr5:g.1266611T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1266496T>C , CM000667.2:g.1266496T>C	GRCh38
NC_000005.9:g.1266611T>C , CM000667.1:g.1266611T>C	GRCh37
NC_000005.8:g.1319611T>C	NCBI36
NG_009265.1:g.33552A>G , LRG_343:g.33552A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310581.10:c.2622A>G MANE Select	ENSP00000309572.5:p.Thr874=
ENST00000656021.1:c.*2168A>G	ENSP00000499759.1:n.*2168A>G
ENST00000310581.9:c.2622A>G	ENSP00000309572.5:p.Thr874=
ENST00000334602.10:c.2622A>G	ENSP00000334346.6:p.Thr874=
ENST00000460137.6:c.2404A>G	ENSP00000425003.1:n.2404A>G
ENST00000484238.6:n.1253A>G
ENST00000503656.1:n.29A>G
ENST00000508104.2:c.2440A>G	ENSP00000426042.2:n.2440A>G
NM_001193376.1:c.2622A>G	NP_001180305.1:p.Thr874=
NM_198253.2:c.2622A>G , LRG_343t1:c.2622A>G	NP_937983.2:p.Thr874=
XM_011514104.1:c.1092A>G	XP_011512406.1:p.Thr364=
XM_011514105.1:c.978A>G	XP_011512407.1:p.Thr326=
XM_011514106.1:c.978A>G	XP_011512408.1:p.Thr326=
NR_149162.1:n.2498A>G
NR_149163.1:n.2462A>G
NM_001193376.2:c.2622A>G	NP_001180305.1:p.Thr874=
NM_198253.3:c.2622A>G MANE Select	NP_937983.2:p.Thr874=
NR_149162.2:n.2519A>G
NR_149163.2:n.2483A>G
NM_001193376.3:c.2622A>G	NP_001180305.1:p.Thr874=
NR_149162.3:n.2519A>G
NR_149163.3:n.2483A>G