Canonical Allele Identifier: CA359067402

Gene: TERT

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1254451T>C , CM000667.2:g.1254451T>C	GRCh38
NC_000005.9:g.1254566T>C , CM000667.1:g.1254566T>C	GRCh37
NC_000005.8:g.1307566T>C	NCBI36
NG_009265.1:g.45597A>G , LRG_343:g.45597A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_198253.3:c.3212A>G MANE Select	NP_937983.2:p.Gln1071Arg
ENST00000310581.10:c.3212A>G MANE Select	ENSP00000309572.5:p.Gln1071Arg
NM_001193376.1:c.3023A>G	NP_001180305.1:p.Gln1008Arg
NM_001193376.2:c.3023A>G	NP_001180305.1:p.Gln1008Arg
NM_001193376.3:c.3023A>G	NP_001180305.1:p.Gln1008Arg
NM_198253.2:c.3212A>G , LRG_343t1:c.3212A>G	NP_937983.2:p.Gln1071Arg
NR_149162.1:n.2899A>G
NR_149162.2:n.2920A>G
NR_149162.3:n.2920A>G
NR_149163.1:n.2863A>G
NR_149163.2:n.2884A>G
NR_149163.3:n.2884A>G
ENST00000310581.9:c.3212A>G	ENSP00000309572.5:p.Gln1071Arg
ENST00000334602.10:c.3023A>G	ENSP00000334346.6:p.Gln1008Arg
ENST00000460137.6:c.2805A>G	ENSP00000425003.1:n.2805A>G
ENST00000484238.6:n.1654A>G
ENST00000656021.1:c.*2758A>G	ENSP00000499759.1:n.*2758A>G
XM_011514104.1:c.1682A>G	XP_011512406.1:p.Gln561Arg
XM_011514105.1:c.1568A>G	XP_011512407.1:p.Gln523Arg
XM_011514106.1:c.1568A>G	XP_011512408.1:p.Gln523Arg
XR_925683.1:n.287-223T>C