Canonical Allele Identifier: CA3184920
Gene: TERT HGNC NCBI

Linked Data

ClinVar Variation Id: 539220
dbSNP Id: rs776569822
gnomAD v2: 5-1294250-C-T
gnomAD v4: 5-1294135-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1294135C>T , CM000667.2:g.1294135C>T GRCh38
NC_000005.9:g.1294250C>T , CM000667.1:g.1294250C>T GRCh37
NC_000005.8:g.1347250C>T NCBI36
NG_009265.1:g.5913G>A , LRG_343:g.5913G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000310581.10:c.751G>A MANE Select ENSP00000309572.5:p.Val251Ile
ENST00000656021.1:c.751G>A ENSP00000499759.1:p.Val251Ile
ENST00000310581.9:c.751G>A ENSP00000309572.5:p.Val251Ile
ENST00000334602.10:c.751G>A ENSP00000334346.6:p.Val251Ile
ENST00000460137.6:c.751G>A ENSP00000425003.1:p.Val251Ile
ENST00000508104.2:c.751G>A ENSP00000426042.2:p.Val251Ile
NM_001193376.1:c.751G>A NP_001180305.1:p.Val251Ile
NM_198253.2:c.751G>A , LRG_343t1:c.751G>A NP_937983.2:p.Val251Ile
NR_149162.1:n.809G>A
NR_149163.1:n.809G>A
NM_001193376.2:c.751G>A NP_001180305.1:p.Val251Ile
NM_198253.3:c.751G>A MANE Select NP_937983.2:p.Val251Ile
NR_149162.2:n.830G>A
NR_149163.2:n.830G>A
NM_001193376.3:c.751G>A NP_001180305.1:p.Val251Ile
NR_149162.3:n.830G>A
NR_149163.3:n.830G>A