Canonical Allele Identifier: CA359079019

Gene: TERT

Linked Data

• dbSNP Id: rs1749785230
• MyVariant Identifiers: chr5:g.1278797T>G (hg19) ; chr5:g.1278682T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1278682T>G , CM000667.2:g.1278682T>G	GRCh38
NC_000005.9:g.1278797T>G , CM000667.1:g.1278797T>G	GRCh37
NC_000005.8:g.1331797T>G	NCBI36
NG_009265.1:g.21366A>C , LRG_343:g.21366A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310581.10:c.2245A>C MANE Select	ENSP00000309572.5:p.Lys749Gln
ENST00000656021.1:c.*1791A>C	ENSP00000499759.1:n.*1791A>C
ENST00000310581.9:c.2245A>C	ENSP00000309572.5:p.Lys749Gln
ENST00000334602.10:c.2245A>C	ENSP00000334346.6:p.Lys749Gln
ENST00000460137.6:c.2209A>C	ENSP00000425003.1:p.Lys737Gln
ENST00000484238.6:n.1058A>C
ENST00000508104.2:c.2245A>C	ENSP00000426042.2:p.Lys749Gln
NM_001193376.1:c.2245A>C	NP_001180305.1:p.Lys749Gln
NM_198253.2:c.2245A>C , LRG_343t1:c.2245A>C	NP_937983.2:p.Lys749Gln
XM_011514104.1:c.715A>C	XP_011512406.1:p.Lys239Gln
XM_011514105.1:c.601A>C	XP_011512407.1:p.Lys201Gln
XM_011514106.1:c.601A>C	XP_011512408.1:p.Lys201Gln
NR_149162.1:n.2303A>C
NR_149163.1:n.2267A>C
NM_001193376.2:c.2245A>C	NP_001180305.1:p.Lys749Gln
NM_198253.3:c.2245A>C MANE Select	NP_937983.2:p.Lys749Gln
NR_149162.2:n.2324A>C
NR_149163.2:n.2288A>C
NM_001193376.3:c.2245A>C	NP_001180305.1:p.Lys749Gln
NR_149162.3:n.2324A>C
NR_149163.3:n.2288A>C