Canonical Allele Identifier: CA359079149

Gene: TERT

Linked Data

• MyVariant Identifiers: chr5:g.1278809C>G (hg19) ; chr5:g.1278694C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1278694C>G , CM000667.2:g.1278694C>G	GRCh38
NC_000005.9:g.1278809C>G , CM000667.1:g.1278809C>G	GRCh37
NC_000005.8:g.1331809C>G	NCBI36
NG_009265.1:g.21354G>C , LRG_343:g.21354G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310581.10:c.2233G>C MANE Select	ENSP00000309572.5:p.Ala745Pro
ENST00000656021.1:c.*1779G>C	ENSP00000499759.1:n.*1779G>C
ENST00000310581.9:c.2233G>C	ENSP00000309572.5:p.Ala745Pro
ENST00000334602.10:c.2233G>C	ENSP00000334346.6:p.Ala745Pro
ENST00000460137.6:c.2197G>C	ENSP00000425003.1:p.Ala733Pro
ENST00000484238.6:n.1046G>C
ENST00000508104.2:c.2233G>C	ENSP00000426042.2:p.Ala745Pro
NM_001193376.1:c.2233G>C	NP_001180305.1:p.Ala745Pro
NM_198253.2:c.2233G>C , LRG_343t1:c.2233G>C	NP_937983.2:p.Ala745Pro
XM_011514104.1:c.703G>C	XP_011512406.1:p.Ala235Pro
XM_011514105.1:c.589G>C	XP_011512407.1:p.Ala197Pro
XM_011514106.1:c.589G>C	XP_011512408.1:p.Ala197Pro
NR_149162.1:n.2291G>C
NR_149163.1:n.2255G>C
NM_001193376.2:c.2233G>C	NP_001180305.1:p.Ala745Pro
NM_198253.3:c.2233G>C MANE Select	NP_937983.2:p.Ala745Pro
NR_149162.2:n.2312G>C
NR_149163.2:n.2276G>C
NM_001193376.3:c.2233G>C	NP_001180305.1:p.Ala745Pro
NR_149162.3:n.2312G>C
NR_149163.3:n.2276G>C