Canonical Allele Identifier: CA112953764

Gene: TERT

Linked Data

• dbSNP Id: rs969514865
• gnomAD v2: 5-1286250-C-T
• gnomAD v3: 5-1286135-C-T
• gnomAD v4: 5-1286135-C-T
• MyVariant Identifiers: chr5:g.1286250C>T (hg19) ; chr5:g.1286135C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1286135C>T , CM000667.2:g.1286135C>T	GRCh38
NC_000005.9:g.1286250C>T , CM000667.1:g.1286250C>T	GRCh37
NC_000005.8:g.1339250C>T	NCBI36
NG_009265.1:g.13913G>A , LRG_343:g.13913G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310581.10:c.1574-3511G>A MANE Select	ENSP00000309572.5:n.1574-3511G>A
ENST00000656021.1:c.*1119+30G>A	ENSP00000499759.1:n.*1119+30G>A
ENST00000310581.9:c.1574-3511G>A	ENSP00000309572.5:n.1574-3511G>A
ENST00000334602.10:c.1574-3511G>A	ENSP00000334346.6:n.1574-3511G>A
ENST00000460137.6:c.1574-3511G>A	ENSP00000425003.1:n.1574-3511G>A
ENST00000508104.2:c.1574-3511G>A	ENSP00000426042.2:n.1574-3511G>A
NM_001193376.1:c.1574-3511G>A	NP_001180305.1:n.1574-3511G>A
NM_198253.2:c.1574-3511G>A , LRG_343t1:c.1574-3511G>A	NP_937983.2:n.1574-3511G>A
XM_011514104.1:c.43+30G>A	XP_011512406.1:n.43+30G>A
XM_011514105.1:c.-83G>A	XP_011512407.1:n.-83G>A
NR_149162.1:n.1632-3511G>A
NR_149163.1:n.1632-3511G>A
NM_001193376.2:c.1574-3511G>A	NP_001180305.1:n.1574-3511G>A
NM_198253.3:c.1574-3511G>A MANE Select	NP_937983.2:n.1574-3511G>A
NR_149162.2:n.1653-3511G>A
NR_149163.2:n.1653-3511G>A
NM_001193376.3:c.1574-3511G>A	NP_001180305.1:n.1574-3511G>A
NR_149162.3:n.1653-3511G>A
NR_149163.3:n.1653-3511G>A