Canonical Allele Identifier: CA359079650

Gene: TERT

Linked Data

• MyVariant Identifiers: chr5:g.1278887T>G (hg19) ; chr5:g.1278772T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1278772T>G , CM000667.2:g.1278772T>G	GRCh38
NC_000005.9:g.1278887T>G , CM000667.1:g.1278887T>G	GRCh37
NC_000005.8:g.1331887T>G	NCBI36
NG_009265.1:g.21276A>C , LRG_343:g.21276A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000310581.10:c.2155A>C MANE Select	ENSP00000309572.5:p.Thr719Pro
ENST00000656021.1:c.*1701A>C	ENSP00000499759.1:n.*1701A>C
ENST00000310581.9:c.2155A>C	ENSP00000309572.5:p.Thr719Pro
ENST00000334602.10:c.2155A>C	ENSP00000334346.6:p.Thr719Pro
ENST00000460137.6:c.2131-12A>C	ENSP00000425003.1:n.2131-12A>C
ENST00000484238.6:n.968A>C
ENST00000508104.2:c.2155A>C	ENSP00000426042.2:p.Thr719Pro
NM_001193376.1:c.2155A>C	NP_001180305.1:p.Thr719Pro
NM_198253.2:c.2155A>C , LRG_343t1:c.2155A>C	NP_937983.2:p.Thr719Pro
XM_011514104.1:c.625A>C	XP_011512406.1:p.Thr209Pro
XM_011514105.1:c.511A>C	XP_011512407.1:p.Thr171Pro
XM_011514106.1:c.511A>C	XP_011512408.1:p.Thr171Pro
NR_149162.1:n.2213A>C
NR_149163.1:n.2189-12A>C
NM_001193376.2:c.2155A>C	NP_001180305.1:p.Thr719Pro
NM_198253.3:c.2155A>C MANE Select	NP_937983.2:p.Thr719Pro
NR_149162.2:n.2234A>C
NR_149163.2:n.2210-12A>C
NM_001193376.3:c.2155A>C	NP_001180305.1:p.Thr719Pro
NR_149162.3:n.2234A>C
NR_149163.3:n.2210-12A>C