Canonical Allele Identifier: CA16611698

Gene: TERT

Linked Data

• ClinVar Variation Id: 410682
• ClinVar RCV Id: RCV002526432
• dbSNP Id: rs1060503005
• gnomAD v4: 5-1279346-G-A
• MyVariant Identifiers: chr5:g.1279461G>A (hg19) ; chr5:g.1279346G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1279346G>A , CM000667.2:g.1279346G>A	GRCh38
NC_000005.9:g.1279461G>A , CM000667.1:g.1279461G>A	GRCh37
NC_000005.8:g.1332461G>A	NCBI36
NG_009265.1:g.20702C>T , LRG_343:g.20702C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000310581.10:c.2075C>T MANE Select	ENSP00000309572.5:p.Thr692Ile
ENST00000656021.1:c.*1621C>T	ENSP00000499759.1:n.*1621C>T
ENST00000310581.9:c.2075C>T	ENSP00000309572.5:p.Thr692Ile
ENST00000334602.10:c.2075C>T	ENSP00000334346.6:p.Thr692Ile
ENST00000460137.6:c.2075C>T	ENSP00000425003.1:p.Thr692Ile
ENST00000484238.6:n.888C>T
ENST00000508104.2:c.2075C>T	ENSP00000426042.2:p.Thr692Ile
NM_001193376.1:c.2075C>T	NP_001180305.1:p.Thr692Ile
NM_198253.2:c.2075C>T , LRG_343t1:c.2075C>T	NP_937983.2:p.Thr692Ile
XM_011514104.1:c.545C>T	XP_011512406.1:p.Thr182Ile
XM_011514105.1:c.431C>T	XP_011512407.1:p.Thr144Ile
XM_011514106.1:c.431C>T	XP_011512408.1:p.Thr144Ile
NR_149162.1:n.2133C>T
NR_149163.1:n.2133C>T
NM_001193376.2:c.2075C>T	NP_001180305.1:p.Thr692Ile
NM_198253.3:c.2075C>T MANE Select	NP_937983.2:p.Thr692Ile
NR_149162.2:n.2154C>T
NR_149163.2:n.2154C>T
NM_001193376.3:c.2075C>T	NP_001180305.1:p.Thr692Ile
NR_149162.3:n.2154C>T
NR_149163.3:n.2154C>T