Canonical Allele Identifier: CA3184347

Gene: TERT

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1260536T>G , CM000667.2:g.1260536T>G	GRCh38
NC_000005.9:g.1260651T>G , CM000667.1:g.1260651T>G	GRCh37
NC_000005.8:g.1313651T>G	NCBI36
NG_009265.1:g.39512A>C , LRG_343:g.39512A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_198253.3:c.2908A>C MANE Select	NP_937983.2:p.Met970Leu
ENST00000310581.10:c.2908A>C MANE Select	ENSP00000309572.5:p.Met970Leu
NM_001193376.1:c.2719A>C	NP_001180305.1:p.Met907Leu
NM_001193376.2:c.2719A>C	NP_001180305.1:p.Met907Leu
NM_001193376.3:c.2719A>C	NP_001180305.1:p.Met907Leu
NM_198253.2:c.2908A>C , LRG_343t1:c.2908A>C	NP_937983.2:p.Met970Leu
NR_149162.1:n.2595A>C
NR_149162.2:n.2616A>C
NR_149162.3:n.2616A>C
NR_149163.1:n.2559A>C
NR_149163.2:n.2580A>C
NR_149163.3:n.2580A>C
ENST00000310581.9:c.2908A>C	ENSP00000309572.5:p.Met970Leu
ENST00000334602.10:c.2719A>C	ENSP00000334346.6:p.Met907Leu
ENST00000460137.6:c.2501A>C	ENSP00000425003.1:n.2501A>C
ENST00000484238.6:n.1350A>C
ENST00000656021.1:c.*2454A>C	ENSP00000499759.1:n.*2454A>C
ENST00000667927.1:n.196A>C
XM_011514104.1:c.1378A>C	XP_011512406.1:p.Met460Leu
XM_011514105.1:c.1264A>C	XP_011512407.1:p.Met422Leu
XM_011514106.1:c.1264A>C	XP_011512408.1:p.Met422Leu