Canonical Allele Identifier: CA359071360

Gene: TERT

Linked Data

• MyVariant Identifiers: chr5:g.1264520T>G (hg19) ; chr5:g.1264405T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1264405T>G , CM000667.2:g.1264405T>G	GRCh38
NC_000005.9:g.1264520T>G , CM000667.1:g.1264520T>G	GRCh37
NC_000005.8:g.1317520T>G	NCBI36
NG_009265.1:g.35643A>C , LRG_343:g.35643A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310581.10:c.2842A>C MANE Select	ENSP00000309572.5:p.Ser948Arg
ENST00000656021.1:c.*2388A>C	ENSP00000499759.1:n.*2388A>C
ENST00000667927.1:n.130A>C
ENST00000310581.9:c.2842A>C	ENSP00000309572.5:p.Ser948Arg
ENST00000334602.10:c.2654+2059A>C	ENSP00000334346.6:n.2654+2059A>C
ENST00000460137.6:c.2436+2059A>C	ENSP00000425003.1:n.2436+2059A>C
ENST00000484238.6:n.1285+2059A>C
ENST00000503656.1:n.249A>C
NM_001193376.1:c.2654+2059A>C	NP_001180305.1:n.2654+2059A>C
NM_198253.2:c.2842A>C , LRG_343t1:c.2842A>C	NP_937983.2:p.Ser948Arg
XM_011514104.1:c.1312A>C	XP_011512406.1:p.Ser438Arg
XM_011514105.1:c.1198A>C	XP_011512407.1:p.Ser400Arg
XM_011514106.1:c.1198A>C	XP_011512408.1:p.Ser400Arg
NR_149162.1:n.2530+2059A>C
NR_149163.1:n.2494+2059A>C
NM_001193376.2:c.2654+2059A>C	NP_001180305.1:n.2654+2059A>C
NM_198253.3:c.2842A>C MANE Select	NP_937983.2:p.Ser948Arg
NR_149162.2:n.2551+2059A>C
NR_149163.2:n.2515+2059A>C
NM_001193376.3:c.2654+2059A>C	NP_001180305.1:n.2654+2059A>C
NR_149162.3:n.2551+2059A>C
NR_149163.3:n.2515+2059A>C