Canonical Allele Identifier: CA359076296

Gene: TERT

Linked Data

• MyVariant Identifiers: chr5:g.1272334G>C (hg19) ; chr5:g.1272219G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1272219G>C , CM000667.2:g.1272219G>C	GRCh38
NC_000005.9:g.1272334G>C , CM000667.1:g.1272334G>C	GRCh37
NC_000005.8:g.1325334G>C	NCBI36
NG_009265.1:g.27829C>G , LRG_343:g.27829C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310581.10:c.2348C>G MANE Select	ENSP00000309572.5:p.Thr783Ser
ENST00000656021.1:c.*1894C>G	ENSP00000499759.1:n.*1894C>G
ENST00000310581.9:c.2348C>G	ENSP00000309572.5:p.Thr783Ser
ENST00000334602.10:c.2348C>G	ENSP00000334346.6:p.Thr783Ser
ENST00000460137.6:c.2251-3586C>G	ENSP00000425003.1:n.2251-3586C>G
ENST00000484238.6:n.1100-3586C>G
ENST00000508104.2:c.2287-3586C>G	ENSP00000426042.2:n.2287-3586C>G
NM_001193376.1:c.2348C>G	NP_001180305.1:p.Thr783Ser
NM_198253.2:c.2348C>G , LRG_343t1:c.2348C>G	NP_937983.2:p.Thr783Ser
XM_011514104.1:c.818C>G	XP_011512406.1:p.Thr273Ser
XM_011514105.1:c.704C>G	XP_011512407.1:p.Thr235Ser
XM_011514106.1:c.704C>G	XP_011512408.1:p.Thr235Ser
NR_149162.1:n.2345-3586C>G
NR_149163.1:n.2309-3586C>G
NM_001193376.2:c.2348C>G	NP_001180305.1:p.Thr783Ser
NM_198253.3:c.2348C>G MANE Select	NP_937983.2:p.Thr783Ser
NR_149162.2:n.2366-3586C>G
NR_149163.2:n.2330-3586C>G
NM_001193376.3:c.2348C>G	NP_001180305.1:p.Thr783Ser
NR_149162.3:n.2366-3586C>G
NR_149163.3:n.2330-3586C>G