Canonical Allele Identifier: CA359076258

Gene: TERT

Linked Data

• MyVariant Identifiers: chr5:g.1272321C>G (hg19) ; chr5:g.1272206C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1272206C>G , CM000667.2:g.1272206C>G	GRCh38
NC_000005.9:g.1272321C>G , CM000667.1:g.1272321C>G	GRCh37
NC_000005.8:g.1325321C>G	NCBI36
NG_009265.1:g.27842G>C , LRG_343:g.27842G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310581.10:c.2361G>C MANE Select	ENSP00000309572.5:p.Arg787Ser
ENST00000656021.1:c.*1907G>C	ENSP00000499759.1:n.*1907G>C
ENST00000310581.9:c.2361G>C	ENSP00000309572.5:p.Arg787Ser
ENST00000334602.10:c.2361G>C	ENSP00000334346.6:p.Arg787Ser
ENST00000460137.6:c.2251-3573G>C	ENSP00000425003.1:n.2251-3573G>C
ENST00000484238.6:n.1100-3573G>C
ENST00000508104.2:c.2287-3573G>C	ENSP00000426042.2:n.2287-3573G>C
NM_001193376.1:c.2361G>C	NP_001180305.1:p.Arg787Ser
NM_198253.2:c.2361G>C , LRG_343t1:c.2361G>C	NP_937983.2:p.Arg787Ser
XM_011514104.1:c.831G>C	XP_011512406.1:p.Arg277Ser
XM_011514105.1:c.717G>C	XP_011512407.1:p.Arg239Ser
XM_011514106.1:c.717G>C	XP_011512408.1:p.Arg239Ser
NR_149162.1:n.2345-3573G>C
NR_149163.1:n.2309-3573G>C
NM_001193376.2:c.2361G>C	NP_001180305.1:p.Arg787Ser
NM_198253.3:c.2361G>C MANE Select	NP_937983.2:p.Arg787Ser
NR_149162.2:n.2366-3573G>C
NR_149163.2:n.2330-3573G>C
NM_001193376.3:c.2361G>C	NP_001180305.1:p.Arg787Ser
NR_149162.3:n.2366-3573G>C
NR_149163.3:n.2330-3573G>C