Canonical Allele Identifier: CA443020720

Gene: TERT

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1258612C>G , CM000667.2:g.1258612C>G	GRCh38
NC_000005.9:g.1258727C>G , CM000667.1:g.1258727C>G	GRCh37
NC_000005.8:g.1311727C>G	NCBI36
NG_009265.1:g.41436G>C , LRG_343:g.41436G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_198253.3:c.3018G>C MANE Select	NP_937983.2:p.Leu1006=
ENST00000310581.10:c.3018G>C MANE Select	ENSP00000309572.5:p.Leu1006=
NM_001193376.1:c.2829G>C	NP_001180305.1:p.Leu943=
NM_001193376.2:c.2829G>C	NP_001180305.1:p.Leu943=
NM_001193376.3:c.2829G>C	NP_001180305.1:p.Leu943=
NM_198253.2:c.3018G>C , LRG_343t1:c.3018G>C	NP_937983.2:p.Leu1006=
NR_149162.1:n.2705G>C
NR_149162.2:n.2726G>C
NR_149162.3:n.2726G>C
NR_149163.1:n.2669G>C
NR_149163.2:n.2690G>C
NR_149163.3:n.2690G>C
ENST00000310581.9:c.3018G>C	ENSP00000309572.5:p.Leu1006=
ENST00000334602.10:c.2829G>C	ENSP00000334346.6:p.Leu943=
ENST00000460137.6:c.2611G>C	ENSP00000425003.1:n.2611G>C
ENST00000484238.6:n.1460G>C
ENST00000656021.1:c.*2564G>C	ENSP00000499759.1:n.*2564G>C
ENST00000667927.1:n.306G>C
XM_011514104.1:c.1488G>C	XP_011512406.1:p.Leu496=
XM_011514105.1:c.1374G>C	XP_011512407.1:p.Leu458=
XM_011514106.1:c.1374G>C	XP_011512408.1:p.Leu458=