Canonical Allele Identifier: CA443024715

Gene: TERT

Linked Data

• ClinVar Variation Id: 2922722
• ClinVar RCV Id: RCV003787888
• gnomAD v4: 5-1279300-G-A
• MyVariant Identifiers: chr5:g.1279415G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1279300G>A , CM000667.2:g.1279300G>A	GRCh38
NC_000005.9:g.1279415G>A , CM000667.1:g.1279415G>A	GRCh37
NC_000005.8:g.1332415G>A	NCBI36
NG_009265.1:g.20748C>T , LRG_343:g.20748C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000310581.10:c.2121C>T MANE Select	ENSP00000309572.5:p.Tyr707=
ENST00000656021.1:c.*1667C>T	ENSP00000499759.1:n.*1667C>T
ENST00000310581.9:c.2121C>T	ENSP00000309572.5:p.Tyr707=
ENST00000334602.10:c.2121C>T	ENSP00000334346.6:p.Tyr707=
ENST00000460137.6:c.2121C>T	ENSP00000425003.1:p.Tyr707=
ENST00000484238.6:n.934C>T
ENST00000508104.2:c.2121C>T	ENSP00000426042.2:p.Tyr707=
NM_001193376.1:c.2121C>T	NP_001180305.1:p.Tyr707=
NM_198253.2:c.2121C>T , LRG_343t1:c.2121C>T	NP_937983.2:p.Tyr707=
XM_011514104.1:c.591C>T	XP_011512406.1:p.Tyr197=
XM_011514105.1:c.477C>T	XP_011512407.1:p.Tyr159=
XM_011514106.1:c.477C>T	XP_011512408.1:p.Tyr159=
NR_149162.1:n.2179C>T
NR_149163.1:n.2179C>T
NM_001193376.2:c.2121C>T	NP_001180305.1:p.Tyr707=
NM_198253.3:c.2121C>T MANE Select	NP_937983.2:p.Tyr707=
NR_149162.2:n.2200C>T
NR_149163.2:n.2200C>T
NM_001193376.3:c.2121C>T	NP_001180305.1:p.Tyr707=
NR_149162.3:n.2200C>T
NR_149163.3:n.2200C>T