Canonical Allele Identifier: CA3184402

Gene: TERT

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1264483T>A , CM000667.2:g.1264483T>A	GRCh38
NC_000005.9:g.1264598T>A , CM000667.1:g.1264598T>A	GRCh37
NC_000005.8:g.1317598T>A	NCBI36
NG_009265.1:g.35565A>T , LRG_343:g.35565A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_198253.3:c.2764A>T MANE Select	NP_937983.2:p.Met922Leu
ENST00000310581.10:c.2764A>T MANE Select	ENSP00000309572.5:p.Met922Leu
NM_001193376.1:c.2654+1981A>T	NP_001180305.1:n.2654+1981A>T
NM_001193376.2:c.2654+1981A>T	NP_001180305.1:n.2654+1981A>T
NM_001193376.3:c.2654+1981A>T	NP_001180305.1:n.2654+1981A>T
NM_198253.2:c.2764A>T , LRG_343t1:c.2764A>T	NP_937983.2:p.Met922Leu
NR_149162.1:n.2530+1981A>T
NR_149162.2:n.2551+1981A>T
NR_149162.3:n.2551+1981A>T
NR_149163.1:n.2494+1981A>T
NR_149163.2:n.2515+1981A>T
NR_149163.3:n.2515+1981A>T
ENST00000310581.9:c.2764A>T	ENSP00000309572.5:p.Met922Leu
ENST00000334602.10:c.2654+1981A>T	ENSP00000334346.6:n.2654+1981A>T
ENST00000460137.6:c.2436+1981A>T	ENSP00000425003.1:n.2436+1981A>T
ENST00000484238.6:n.1285+1981A>T
ENST00000503656.1:n.171A>T
ENST00000656021.1:c.*2310A>T	ENSP00000499759.1:n.*2310A>T
ENST00000667927.1:n.52A>T
XM_011514104.1:c.1234A>T	XP_011512406.1:p.Met412Leu
XM_011514105.1:c.1120A>T	XP_011512407.1:p.Met374Leu
XM_011514106.1:c.1120A>T	XP_011512408.1:p.Met374Leu