Canonical Allele Identifier: CA359079638

Gene: TERT

Linked Data

• MyVariant Identifiers: chr5:g.1278884T>G (hg19) ; chr5:g.1278769T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1278769T>G , CM000667.2:g.1278769T>G	GRCh38
NC_000005.9:g.1278884T>G , CM000667.1:g.1278884T>G	GRCh37
NC_000005.8:g.1331884T>G	NCBI36
NG_009265.1:g.21279A>C , LRG_343:g.21279A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000310581.10:c.2158A>C MANE Select	ENSP00000309572.5:p.Ile720Leu
ENST00000656021.1:c.*1704A>C	ENSP00000499759.1:n.*1704A>C
ENST00000310581.9:c.2158A>C	ENSP00000309572.5:p.Ile720Leu
ENST00000334602.10:c.2158A>C	ENSP00000334346.6:p.Ile720Leu
ENST00000460137.6:c.2131-9A>C	ENSP00000425003.1:n.2131-9A>C
ENST00000484238.6:n.971A>C
ENST00000508104.2:c.2158A>C	ENSP00000426042.2:p.Ile720Leu
NM_001193376.1:c.2158A>C	NP_001180305.1:p.Ile720Leu
NM_198253.2:c.2158A>C , LRG_343t1:c.2158A>C	NP_937983.2:p.Ile720Leu
XM_011514104.1:c.628A>C	XP_011512406.1:p.Ile210Leu
XM_011514105.1:c.514A>C	XP_011512407.1:p.Ile172Leu
XM_011514106.1:c.514A>C	XP_011512408.1:p.Ile172Leu
NR_149162.1:n.2216A>C
NR_149163.1:n.2189-9A>C
NM_001193376.2:c.2158A>C	NP_001180305.1:p.Ile720Leu
NM_198253.3:c.2158A>C MANE Select	NP_937983.2:p.Ile720Leu
NR_149162.2:n.2237A>C
NR_149163.2:n.2210-9A>C
NM_001193376.3:c.2158A>C	NP_001180305.1:p.Ile720Leu
NR_149162.3:n.2237A>C
NR_149163.3:n.2210-9A>C