Canonical Allele Identifier: CA359059968

Gene: TERT

Linked Data

• dbSNP Id: rs1751301663
• MyVariant Identifiers: chr5:g.1295085C>G (hg19) ; chr5:g.1294970C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1294970C>G , CM000667.2:g.1294970C>G	GRCh38
NC_000005.9:g.1295085C>G , CM000667.1:g.1295085C>G	GRCh37
NC_000005.8:g.1348085C>G	NCBI36
NG_009265.1:g.5078G>C , LRG_343:g.5078G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310581.10:c.20G>C MANE Select	ENSP00000309572.5:p.Cys7Ser
ENST00000656021.1:c.20G>C	ENSP00000499759.1:p.Cys7Ser
ENST00000310581.9:c.20G>C	ENSP00000309572.5:p.Cys7Ser
ENST00000334602.10:c.20G>C	ENSP00000334346.6:p.Cys7Ser
ENST00000460137.6:c.20G>C	ENSP00000425003.1:p.Cys7Ser
ENST00000508104.2:c.20G>C	ENSP00000426042.2:p.Cys7Ser
ENST00000522877.1:n.100G>C
NM_001193376.1:c.20G>C	NP_001180305.1:p.Cys7Ser
NM_198253.2:c.20G>C , LRG_343t1:c.20G>C	NP_937983.2:p.Cys7Ser
NR_149162.1:n.78G>C
NR_149163.1:n.78G>C
NM_001193376.2:c.20G>C	NP_001180305.1:p.Cys7Ser
NM_198253.3:c.20G>C MANE Select	NP_937983.2:p.Cys7Ser
NR_149162.2:n.99G>C
NR_149163.2:n.99G>C
NM_001193376.3:c.20G>C	NP_001180305.1:p.Cys7Ser
NR_149162.3:n.99G>C
NR_149163.3:n.99G>C