Canonical Allele Identifier: CA112944751
Gene: TERT HGNC NCBI

Linked Data

ClinVar Variation Id: 436978
dbSNP Id: rs374592280
gnomAD v2: 5-1272381-T-C
gnomAD v3: 5-1272266-T-C
gnomAD v4: 5-1272266-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1272266T>C , CM000667.2:g.1272266T>C GRCh38
NC_000005.9:g.1272381T>C , CM000667.1:g.1272381T>C GRCh37
NC_000005.8:g.1325381T>C NCBI36
NG_009265.1:g.27782A>G , LRG_343:g.27782A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000310581.10:c.2301A>G MANE Select ENSP00000309572.5:p.Thr767=
ENST00000656021.1:c.*1847A>G ENSP00000499759.1:n.*1847A>G
ENST00000310581.9:c.2301A>G ENSP00000309572.5:p.Thr767=
ENST00000334602.10:c.2301A>G ENSP00000334346.6:p.Thr767=
ENST00000460137.6:c.2251-3633A>G ENSP00000425003.1:n.2251-3633A>G
ENST00000484238.6:n.1100-3633A>G
ENST00000508104.2:c.2287-3633A>G ENSP00000426042.2:n.2287-3633A>G
NM_001193376.1:c.2301A>G NP_001180305.1:p.Thr767=
NM_198253.2:c.2301A>G , LRG_343t1:c.2301A>G NP_937983.2:p.Thr767=
XM_011514104.1:c.771A>G XP_011512406.1:p.Thr257=
XM_011514105.1:c.657A>G XP_011512407.1:p.Thr219=
XM_011514106.1:c.657A>G XP_011512408.1:p.Thr219=
NR_149162.1:n.2345-3633A>G
NR_149163.1:n.2309-3633A>G
NM_001193376.2:c.2301A>G NP_001180305.1:p.Thr767=
NM_198253.3:c.2301A>G MANE Select NP_937983.2:p.Thr767=
NR_149162.2:n.2366-3633A>G
NR_149163.2:n.2330-3633A>G
NM_001193376.3:c.2301A>G NP_001180305.1:p.Thr767=
NR_149162.3:n.2366-3633A>G
NR_149163.3:n.2330-3633A>G