Canonical Allele Identifier: CA359073290

Gene: TERT

Linked Data - Variant Effect Evidence

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1266519C>G , CM000667.2:g.1266519C>G	GRCh38
NC_000005.9:g.1266634C>G , CM000667.1:g.1266634C>G	GRCh37
NC_000005.8:g.1319634C>G	NCBI36
NG_009265.1:g.33529G>C , LRG_343:g.33529G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310581.10:c.2599G>C MANE Select	ENSP00000309572.5:p.Val867Leu
ENST00000656021.1:c.*2145G>C	ENSP00000499759.1:n.*2145G>C
ENST00000310581.9:c.2599G>C	ENSP00000309572.5:p.Val867Leu
ENST00000334602.10:c.2599G>C	ENSP00000334346.6:p.Val867Leu
ENST00000460137.6:c.2381G>C	ENSP00000425003.1:p.Gly794Ala
ENST00000484238.6:n.1230G>C
ENST00000503656.1:n.6G>C
ENST00000508104.2:c.2417G>C	ENSP00000426042.2:p.Gly806Ala
NM_001193376.1:c.2599G>C	NP_001180305.1:p.Val867Leu
NM_198253.2:c.2599G>C , LRG_343t1:c.2599G>C	NP_937983.2:p.Val867Leu
XM_011514104.1:c.1069G>C	XP_011512406.1:p.Val357Leu
XM_011514105.1:c.955G>C	XP_011512407.1:p.Val319Leu
XM_011514106.1:c.955G>C	XP_011512408.1:p.Val319Leu
NR_149162.1:n.2475G>C
NR_149163.1:n.2439G>C
NM_001193376.2:c.2599G>C	NP_001180305.1:p.Val867Leu
NM_198253.3:c.2599G>C MANE Select	NP_937983.2:p.Val867Leu
NR_149162.2:n.2496G>C
NR_149163.2:n.2460G>C
NM_001193376.3:c.2599G>C	NP_001180305.1:p.Val867Leu
NR_149162.3:n.2496G>C
NR_149163.3:n.2460G>C