Canonical Allele Identifier: CA3184691

Gene: TERT

Linked Data

• ClinVar Variation Id: 242221
• ClinVar RCV Id: RCV000987500 ; RCV001155364 ; RCV001155365 ; RCV001155363 ; RCV002255340 ; RCV002418031 ; RCV002518370 ; RCV004532972
• dbSNP Id: rs758494245
• ExAC: 5:1279535 G / A
• gnomAD v2: 5-1279535-G-A
• gnomAD v3: 5-1279420-G-A
• gnomAD v4: 5-1279420-G-A
• MyVariant Identifiers: chr5:g.1279535G>A (hg19) ; chr5:g.1279420G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1279420G>A , CM000667.2:g.1279420G>A	GRCh38
NC_000005.9:g.1279535G>A , CM000667.1:g.1279535G>A	GRCh37
NC_000005.8:g.1332535G>A	NCBI36
NG_009265.1:g.20628C>T , LRG_343:g.20628C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310581.10:c.2001C>T MANE Select	ENSP00000309572.5:p.Tyr667=
ENST00000656021.1:c.*1547C>T	ENSP00000499759.1:n.*1547C>T
ENST00000310581.9:c.2001C>T	ENSP00000309572.5:p.Tyr667=
ENST00000334602.10:c.2001C>T	ENSP00000334346.6:p.Tyr667=
ENST00000460137.6:c.2001C>T	ENSP00000425003.1:p.Tyr667=
ENST00000484238.6:n.814C>T
ENST00000508104.2:c.2001C>T	ENSP00000426042.2:p.Tyr667=
NM_001193376.1:c.2001C>T	NP_001180305.1:p.Tyr667=
NM_198253.2:c.2001C>T , LRG_343t1:c.2001C>T	NP_937983.2:p.Tyr667=
XM_011514104.1:c.471C>T	XP_011512406.1:p.Tyr157=
XM_011514105.1:c.357C>T	XP_011512407.1:p.Tyr119=
XM_011514106.1:c.357C>T	XP_011512408.1:p.Tyr119=
NR_149162.1:n.2059C>T
NR_149163.1:n.2059C>T
NM_001193376.2:c.2001C>T	NP_001180305.1:p.Tyr667=
NM_198253.3:c.2001C>T MANE Select	NP_937983.2:p.Tyr667=
NR_149162.2:n.2080C>T
NR_149163.2:n.2080C>T
NM_001193376.3:c.2001C>T	NP_001180305.1:p.Tyr667=
NR_149162.3:n.2080C>T
NR_149163.3:n.2080C>T