Canonical Allele Identifier: CA443024714

Gene: TERT

Linked Data

• gnomAD v4: 5-1279297-A-G
• MyVariant Identifiers: chr5:g.1279412A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1279297A>G , CM000667.2:g.1279297A>G	GRCh38
NC_000005.9:g.1279412A>G , CM000667.1:g.1279412A>G	GRCh37
NC_000005.8:g.1332412A>G	NCBI36
NG_009265.1:g.20751T>C , LRG_343:g.20751T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000310581.10:c.2124T>C MANE Select	ENSP00000309572.5:p.Phe708=
ENST00000656021.1:c.*1670T>C	ENSP00000499759.1:n.*1670T>C
ENST00000310581.9:c.2124T>C	ENSP00000309572.5:p.Phe708=
ENST00000334602.10:c.2124T>C	ENSP00000334346.6:p.Phe708=
ENST00000460137.6:c.2124T>C	ENSP00000425003.1:p.Phe708=
ENST00000484238.6:n.937T>C
ENST00000508104.2:c.2124T>C	ENSP00000426042.2:p.Phe708=
NM_001193376.1:c.2124T>C	NP_001180305.1:p.Phe708=
NM_198253.2:c.2124T>C , LRG_343t1:c.2124T>C	NP_937983.2:p.Phe708=
XM_011514104.1:c.594T>C	XP_011512406.1:p.Phe198=
XM_011514105.1:c.480T>C	XP_011512407.1:p.Phe160=
XM_011514106.1:c.480T>C	XP_011512408.1:p.Phe160=
NR_149162.1:n.2182T>C
NR_149163.1:n.2182T>C
NM_001193376.2:c.2124T>C	NP_001180305.1:p.Phe708=
NM_198253.3:c.2124T>C MANE Select	NP_937983.2:p.Phe708=
NR_149162.2:n.2203T>C
NR_149163.2:n.2203T>C
NM_001193376.3:c.2124T>C	NP_001180305.1:p.Phe708=
NR_149162.3:n.2203T>C
NR_149163.3:n.2203T>C