Canonical Allele Identifier: CA3184642

Gene: TERT

Linked Data

• ClinVar Variation Id: 410687
• ClinVar RCV Id: RCV002525587 ; RCV002429527 ; RCV003150818 ; RCV003150819 ; RCV003233642
• dbSNP Id: rs772441504
• ExAC: 5:1278901 G / A
• gnomAD v2: 5-1278901-G-A
• gnomAD v3: 5-1278786-G-A
• gnomAD v4: 5-1278786-G-A
• MyVariant Identifiers: chr5:g.1278901G>A (hg19) ; chr5:g.1278786G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1278786G>A , CM000667.2:g.1278786G>A	GRCh38
NC_000005.9:g.1278901G>A , CM000667.1:g.1278901G>A	GRCh37
NC_000005.8:g.1331901G>A	NCBI36
NG_009265.1:g.21262C>T , LRG_343:g.21262C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310581.10:c.2141C>T MANE Select	ENSP00000309572.5:p.Thr714Met
ENST00000656021.1:c.*1687C>T	ENSP00000499759.1:n.*1687C>T
ENST00000310581.9:c.2141C>T	ENSP00000309572.5:p.Thr714Met
ENST00000334602.10:c.2141C>T	ENSP00000334346.6:p.Thr714Met
ENST00000460137.6:c.2131-26C>T	ENSP00000425003.1:n.2131-26C>T
ENST00000484238.6:n.954C>T
ENST00000508104.2:c.2141C>T	ENSP00000426042.2:p.Thr714Met
NM_001193376.1:c.2141C>T	NP_001180305.1:p.Thr714Met
NM_198253.2:c.2141C>T , LRG_343t1:c.2141C>T	NP_937983.2:p.Thr714Met
XM_011514104.1:c.611C>T	XP_011512406.1:p.Thr204Met
XM_011514105.1:c.497C>T	XP_011512407.1:p.Thr166Met
XM_011514106.1:c.497C>T	XP_011512408.1:p.Thr166Met
NR_149162.1:n.2199C>T
NR_149163.1:n.2189-26C>T
NM_001193376.2:c.2141C>T	NP_001180305.1:p.Thr714Met
NM_198253.3:c.2141C>T MANE Select	NP_937983.2:p.Thr714Met
NR_149162.2:n.2220C>T
NR_149163.2:n.2210-26C>T
NM_001193376.3:c.2141C>T	NP_001180305.1:p.Thr714Met
NR_149162.3:n.2220C>T
NR_149163.3:n.2210-26C>T