Canonical Allele Identifier: CA1072501581

Gene: TERT

Linked Data

• dbSNP Id: rs1749067212
• gnomAD v3: 5-1271948-T-C
• gnomAD v4: 5-1271948-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1271948T>C , CM000667.2:g.1271948T>C	GRCh38
NC_000005.9:g.1272063T>C , CM000667.1:g.1272063T>C	GRCh37
NC_000005.8:g.1325063T>C	NCBI36
NG_009265.1:g.28100A>G , LRG_343:g.28100A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310581.10:c.2382+237A>G MANE Select	ENSP00000309572.5:n.2382+237A>G
ENST00000656021.1:c.*1928+237A>G	ENSP00000499759.1:n.*1928+237A>G
ENST00000310581.9:c.2382+237A>G	ENSP00000309572.5:n.2382+237A>G
ENST00000334602.10:c.2382+237A>G	ENSP00000334346.6:n.2382+237A>G
ENST00000460137.6:c.2251-3315A>G	ENSP00000425003.1:n.2251-3315A>G
ENST00000484238.6:n.1100-3315A>G
ENST00000508104.2:c.2287-3315A>G	ENSP00000426042.2:n.2287-3315A>G
NM_001193376.1:c.2382+237A>G	NP_001180305.1:n.2382+237A>G
NM_198253.2:c.2382+237A>G , LRG_343t1:c.2382+237A>G	NP_937983.2:n.2382+237A>G
XM_011514104.1:c.852+237A>G	XP_011512406.1:n.852+237A>G
XM_011514105.1:c.738+237A>G	XP_011512407.1:n.738+237A>G
XM_011514106.1:c.738+237A>G	XP_011512408.1:n.738+237A>G
NR_149162.1:n.2345-3315A>G
NR_149163.1:n.2309-3315A>G
NM_001193376.2:c.2382+237A>G	NP_001180305.1:n.2382+237A>G
NM_198253.3:c.2382+237A>G MANE Select	NP_937983.2:n.2382+237A>G
NR_149162.2:n.2366-3315A>G
NR_149163.2:n.2330-3315A>G
NM_001193376.3:c.2382+237A>G	NP_001180305.1:n.2382+237A>G
NR_149162.3:n.2366-3315A>G
NR_149163.3:n.2330-3315A>G