Canonical Allele Identifier: CA359073062

Gene: TERT

Linked Data

• dbSNP Id: rs1299344520
• gnomAD v2: 5-1266578-C-T
• MyVariant Identifiers: chr5:g.1266578C>T (hg19) ; chr5:g.1266463C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1266463C>T , CM000667.2:g.1266463C>T	GRCh38
NC_000005.9:g.1266578C>T , CM000667.1:g.1266578C>T	GRCh37
NC_000005.8:g.1319578C>T	NCBI36
NG_009265.1:g.33585G>A , LRG_343:g.33585G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310581.10:c.2654+1G>A MANE Select	ENSP00000309572.5:n.2654+1G>A
ENST00000656021.1:c.*2200+1G>A	ENSP00000499759.1:n.*2200+1G>A
ENST00000310581.9:c.2654+1G>A	ENSP00000309572.5:n.2654+1G>A
ENST00000334602.10:c.2654+1G>A	ENSP00000334346.6:n.2654+1G>A
ENST00000460137.6:c.2436+1G>A	ENSP00000425003.1:n.2436+1G>A
ENST00000484238.6:n.1285+1G>A
ENST00000503656.1:n.61+1G>A
ENST00000508104.2:c.2473G>A	ENSP00000426042.2:n.2473G>A
NM_001193376.1:c.2654+1G>A	NP_001180305.1:n.2654+1G>A
NM_198253.2:c.2654+1G>A , LRG_343t1:c.2654+1G>A	NP_937983.2:n.2654+1G>A
XM_011514104.1:c.1124+1G>A	XP_011512406.1:n.1124+1G>A
XM_011514105.1:c.1010+1G>A	XP_011512407.1:n.1010+1G>A
XM_011514106.1:c.1010+1G>A	XP_011512408.1:n.1010+1G>A
NR_149162.1:n.2530+1G>A
NR_149163.1:n.2494+1G>A
NM_001193376.2:c.2654+1G>A	NP_001180305.1:n.2654+1G>A
NM_198253.3:c.2654+1G>A MANE Select	NP_937983.2:n.2654+1G>A
NR_149162.2:n.2551+1G>A
NR_149163.2:n.2515+1G>A
NM_001193376.3:c.2654+1G>A	NP_001180305.1:n.2654+1G>A
NR_149162.3:n.2551+1G>A
NR_149163.3:n.2515+1G>A