Canonical Allele Identifier: CA443025933

Gene: TERT

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1282479G>C , CM000667.2:g.1282479G>C	GRCh38
NC_000005.9:g.1282594G>C , CM000667.1:g.1282594G>C	GRCh37
NC_000005.8:g.1335594G>C	NCBI36
NG_009265.1:g.17569C>G , LRG_343:g.17569C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_198253.3:c.1719C>G MANE Select	NP_937983.2:p.Leu573=
ENST00000310581.10:c.1719C>G MANE Select	ENSP00000309572.5:p.Leu573=
NM_001193376.1:c.1719C>G	NP_001180305.1:p.Leu573=
NM_001193376.2:c.1719C>G	NP_001180305.1:p.Leu573=
NM_001193376.3:c.1719C>G	NP_001180305.1:p.Leu573=
NM_198253.2:c.1719C>G , LRG_343t1:c.1719C>G	NP_937983.2:p.Leu573=
NR_149162.1:n.1777C>G
NR_149162.2:n.1798C>G
NR_149162.3:n.1798C>G
NR_149163.1:n.1777C>G
NR_149163.2:n.1798C>G
NR_149163.3:n.1798C>G
ENST00000310581.9:c.1719C>G	ENSP00000309572.5:p.Leu573=
ENST00000334602.10:c.1719C>G	ENSP00000334346.6:p.Leu573=
ENST00000460137.6:c.1719C>G	ENSP00000425003.1:p.Leu573=
ENST00000484238.6:n.532C>G
ENST00000508104.2:c.1719C>G	ENSP00000426042.2:p.Leu573=
ENST00000656021.1:c.*1265C>G	ENSP00000499759.1:n.*1265C>G
XM_011514104.1:c.189C>G	XP_011512406.1:p.Leu63=
XM_011514105.1:c.75C>G	XP_011512407.1:p.Leu25=
XM_011514106.1:c.75C>G	XP_011512408.1:p.Leu25=