Canonical Allele Identifier: CA359069882

Gene: TERT

Linked Data

• dbSNP Id: rs1748151682
• MyVariant Identifiers: chr5:g.1260632C>G (hg19) ; chr5:g.1260517C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1260517C>G , CM000667.2:g.1260517C>G	GRCh38
NC_000005.9:g.1260632C>G , CM000667.1:g.1260632C>G	GRCh37
NC_000005.8:g.1313632C>G	NCBI36
NG_009265.1:g.39531G>C , LRG_343:g.39531G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000310581.10:c.2927G>C MANE Select	ENSP00000309572.5:p.Gly976Ala
ENST00000656021.1:c.*2473G>C	ENSP00000499759.1:n.*2473G>C
ENST00000667927.1:n.215G>C
ENST00000310581.9:c.2927G>C	ENSP00000309572.5:p.Gly976Ala
ENST00000334602.10:c.2738G>C	ENSP00000334346.6:p.Gly913Ala
ENST00000460137.6:c.2520G>C	ENSP00000425003.1:n.2520G>C
ENST00000484238.6:n.1369G>C
NM_001193376.1:c.2738G>C	NP_001180305.1:p.Gly913Ala
NM_198253.2:c.2927G>C , LRG_343t1:c.2927G>C	NP_937983.2:p.Gly976Ala
XM_011514104.1:c.1397G>C	XP_011512406.1:p.Gly466Ala
XM_011514105.1:c.1283G>C	XP_011512407.1:p.Gly428Ala
XM_011514106.1:c.1283G>C	XP_011512408.1:p.Gly428Ala
NR_149162.1:n.2614G>C
NR_149163.1:n.2578G>C
NM_001193376.2:c.2738G>C	NP_001180305.1:p.Gly913Ala
NM_198253.3:c.2927G>C MANE Select	NP_937983.2:p.Gly976Ala
NR_149162.2:n.2635G>C
NR_149163.2:n.2599G>C
NM_001193376.3:c.2738G>C	NP_001180305.1:p.Gly913Ala
NR_149162.3:n.2635G>C
NR_149163.3:n.2599G>C