Canonical Allele Identifier: CA229215

Gene: TERT

Linked Data

• ClinVar Variation Id: 100894
• ClinVar RCV Id: RCV000087256
• dbSNP Id: rs483352771
• MyVariant Identifiers: chr5:g.1272328G>T (hg19) ; chr5:g.1272213G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1272213G>T , CM000667.2:g.1272213G>T	GRCh38
NC_000005.9:g.1272328G>T , CM000667.1:g.1272328G>T	GRCh37
NC_000005.8:g.1325328G>T	NCBI36
NG_009265.1:g.27835C>A , LRG_343:g.27835C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310581.10:c.2354C>A MANE Select	ENSP00000309572.5:p.Pro785Gln
ENST00000656021.1:c.*1900C>A	ENSP00000499759.1:n.*1900C>A
ENST00000310581.9:c.2354C>A	ENSP00000309572.5:p.Pro785Gln
ENST00000334602.10:c.2354C>A	ENSP00000334346.6:p.Pro785Gln
ENST00000460137.6:c.2251-3580C>A	ENSP00000425003.1:n.2251-3580C>A
ENST00000484238.6:n.1100-3580C>A
ENST00000508104.2:c.2287-3580C>A	ENSP00000426042.2:n.2287-3580C>A
NM_001193376.1:c.2354C>A	NP_001180305.1:p.Pro785Gln
NM_198253.2:c.2354C>A , LRG_343t1:c.2354C>A	NP_937983.2:p.Pro785Gln
XM_011514104.1:c.824C>A	XP_011512406.1:p.Pro275Gln
XM_011514105.1:c.710C>A	XP_011512407.1:p.Pro237Gln
XM_011514106.1:c.710C>A	XP_011512408.1:p.Pro237Gln
NR_149162.1:n.2345-3580C>A
NR_149163.1:n.2309-3580C>A
NM_001193376.2:c.2354C>A	NP_001180305.1:p.Pro785Gln
NM_198253.3:c.2354C>A MANE Select	NP_937983.2:p.Pro785Gln
NR_149162.2:n.2366-3580C>A
NR_149163.2:n.2330-3580C>A
NM_001193376.3:c.2354C>A	NP_001180305.1:p.Pro785Gln
NR_149162.3:n.2366-3580C>A
NR_149163.3:n.2330-3580C>A