Canonical Allele Identifier: CA3184726

Gene: TERT

Linked Data

• ClinVar Variation Id: 410674
• ClinVar RCV Id: RCV002244939 ; RCV002307507 ; RCV002506127 ; RCV002526430 ; RCV004539953 ; RCV003463952
• dbSNP Id: rs201927653
• ExAC: 5:1280292 G / A
• gnomAD v2: 5-1280292-G-A
• gnomAD v3: 5-1280177-G-A
• gnomAD v4: 5-1280177-G-A
• MyVariant Identifiers: chr5:g.1280292G>A (hg19) ; chr5:g.1280177G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1280177G>A , CM000667.2:g.1280177G>A	GRCh38
NC_000005.9:g.1280292G>A , CM000667.1:g.1280292G>A	GRCh37
NC_000005.8:g.1333292G>A	NCBI36
NG_009265.1:g.19871C>T , LRG_343:g.19871C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310581.10:c.1931C>T MANE Select	ENSP00000309572.5:p.Thr644Met
ENST00000656021.1:c.*1477C>T	ENSP00000499759.1:n.*1477C>T
ENST00000310581.9:c.1931C>T	ENSP00000309572.5:p.Thr644Met
ENST00000334602.10:c.1931C>T	ENSP00000334346.6:p.Thr644Met
ENST00000460137.6:c.1931C>T	ENSP00000425003.1:p.Thr644Met
ENST00000484238.6:n.744C>T
ENST00000508104.2:c.1931C>T	ENSP00000426042.2:p.Thr644Met
NM_001193376.1:c.1931C>T	NP_001180305.1:p.Thr644Met
NM_198253.2:c.1931C>T , LRG_343t1:c.1931C>T	NP_937983.2:p.Thr644Met
XM_011514104.1:c.401C>T	XP_011512406.1:p.Thr134Met
XM_011514105.1:c.287C>T	XP_011512407.1:p.Thr96Met
XM_011514106.1:c.287C>T	XP_011512408.1:p.Thr96Met
NR_149162.1:n.1989C>T
NR_149163.1:n.1989C>T
NM_001193376.2:c.1931C>T	NP_001180305.1:p.Thr644Met
NM_198253.3:c.1931C>T MANE Select	NP_937983.2:p.Thr644Met
NR_149162.2:n.2010C>T
NR_149163.2:n.2010C>T
NM_001193376.3:c.1931C>T	NP_001180305.1:p.Thr644Met
NR_149162.3:n.2010C>T
NR_149163.3:n.2010C>T