Canonical Allele Identifier: CA359079092

Gene: TERT

Linked Data

• ClinVar Variation Id: 1788280
• ClinVar RCV Id: RCV002428370
• MyVariant Identifiers: chr5:g.1278802A>G (hg19) ; chr5:g.1278687A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1278687A>G , CM000667.2:g.1278687A>G	GRCh38
NC_000005.9:g.1278802A>G , CM000667.1:g.1278802A>G	GRCh37
NC_000005.8:g.1331802A>G	NCBI36
NG_009265.1:g.21361T>C , LRG_343:g.21361T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310581.10:c.2240T>C MANE Select	ENSP00000309572.5:p.Val747Ala
ENST00000656021.1:c.*1786T>C	ENSP00000499759.1:n.*1786T>C
ENST00000310581.9:c.2240T>C	ENSP00000309572.5:p.Val747Ala
ENST00000334602.10:c.2240T>C	ENSP00000334346.6:p.Val747Ala
ENST00000460137.6:c.2204T>C	ENSP00000425003.1:p.Val735Ala
ENST00000484238.6:n.1053T>C
ENST00000508104.2:c.2240T>C	ENSP00000426042.2:p.Val747Ala
NM_001193376.1:c.2240T>C	NP_001180305.1:p.Val747Ala
NM_198253.2:c.2240T>C , LRG_343t1:c.2240T>C	NP_937983.2:p.Val747Ala
XM_011514104.1:c.710T>C	XP_011512406.1:p.Val237Ala
XM_011514105.1:c.596T>C	XP_011512407.1:p.Val199Ala
XM_011514106.1:c.596T>C	XP_011512408.1:p.Val199Ala
NR_149162.1:n.2298T>C
NR_149163.1:n.2262T>C
NM_001193376.2:c.2240T>C	NP_001180305.1:p.Val747Ala
NM_198253.3:c.2240T>C MANE Select	NP_937983.2:p.Val747Ala
NR_149162.2:n.2319T>C
NR_149163.2:n.2283T>C
NM_001193376.3:c.2240T>C	NP_001180305.1:p.Val747Ala
NR_149162.3:n.2319T>C
NR_149163.3:n.2283T>C