Canonical Allele Identifier: CA557567950

Gene: TERT

Linked Data

• dbSNP Id: rs952953857
• gnomAD v2: 5-1272211-C-G
• gnomAD v3: 5-1272096-C-G
• gnomAD v4: 5-1272096-C-G
• MyVariant Identifiers: chr5:g.1272211C>G (hg19) ; chr5:g.1272096C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1272096C>G , CM000667.2:g.1272096C>G	GRCh38
NC_000005.9:g.1272211C>G , CM000667.1:g.1272211C>G	GRCh37
NC_000005.8:g.1325211C>G	NCBI36
NG_009265.1:g.27952G>C , LRG_343:g.27952G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310581.10:c.2382+89G>C MANE Select	ENSP00000309572.5:n.2382+89G>C
ENST00000656021.1:c.*1928+89G>C	ENSP00000499759.1:n.*1928+89G>C
ENST00000310581.9:c.2382+89G>C	ENSP00000309572.5:n.2382+89G>C
ENST00000334602.10:c.2382+89G>C	ENSP00000334346.6:n.2382+89G>C
ENST00000460137.6:c.2251-3463G>C	ENSP00000425003.1:n.2251-3463G>C
ENST00000484238.6:n.1100-3463G>C
ENST00000508104.2:c.2287-3463G>C	ENSP00000426042.2:n.2287-3463G>C
NM_001193376.1:c.2382+89G>C	NP_001180305.1:n.2382+89G>C
NM_198253.2:c.2382+89G>C , LRG_343t1:c.2382+89G>C	NP_937983.2:n.2382+89G>C
XM_011514104.1:c.852+89G>C	XP_011512406.1:n.852+89G>C
XM_011514105.1:c.738+89G>C	XP_011512407.1:n.738+89G>C
XM_011514106.1:c.738+89G>C	XP_011512408.1:n.738+89G>C
NR_149162.1:n.2345-3463G>C
NR_149163.1:n.2309-3463G>C
NM_001193376.2:c.2382+89G>C	NP_001180305.1:n.2382+89G>C
NM_198253.3:c.2382+89G>C MANE Select	NP_937983.2:n.2382+89G>C
NR_149162.2:n.2366-3463G>C
NR_149163.2:n.2330-3463G>C
NM_001193376.3:c.2382+89G>C	NP_001180305.1:n.2382+89G>C
NR_149162.3:n.2366-3463G>C
NR_149163.3:n.2330-3463G>C