Canonical Allele Identifier: CA359072147

Gene: TERT

Linked Data

• MyVariant Identifiers: chr5:g.1264656C>A (hg19) ; chr5:g.1264541C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1264541C>A , CM000667.2:g.1264541C>A	GRCh38
NC_000005.9:g.1264656C>A , CM000667.1:g.1264656C>A	GRCh37
NC_000005.8:g.1317656C>A	NCBI36
NG_009265.1:g.35507G>T , LRG_343:g.35507G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310581.10:c.2706G>T MANE Select	ENSP00000309572.5:p.Lys902Asn
ENST00000656021.1:c.*2252G>T	ENSP00000499759.1:n.*2252G>T
ENST00000310581.9:c.2706G>T	ENSP00000309572.5:p.Lys902Asn
ENST00000334602.10:c.2654+1923G>T	ENSP00000334346.6:n.2654+1923G>T
ENST00000460137.6:c.2436+1923G>T	ENSP00000425003.1:n.2436+1923G>T
ENST00000484238.6:n.1285+1923G>T
ENST00000503656.1:n.113G>T
NM_001193376.1:c.2654+1923G>T	NP_001180305.1:n.2654+1923G>T
NM_198253.2:c.2706G>T , LRG_343t1:c.2706G>T	NP_937983.2:p.Lys902Asn
XM_011514104.1:c.1176G>T	XP_011512406.1:p.Lys392Asn
XM_011514105.1:c.1062G>T	XP_011512407.1:p.Lys354Asn
XM_011514106.1:c.1062G>T	XP_011512408.1:p.Lys354Asn
NR_149162.1:n.2530+1923G>T
NR_149163.1:n.2494+1923G>T
NM_001193376.2:c.2654+1923G>T	NP_001180305.1:n.2654+1923G>T
NM_198253.3:c.2706G>T MANE Select	NP_937983.2:p.Lys902Asn
NR_149162.2:n.2551+1923G>T
NR_149163.2:n.2515+1923G>T
NM_001193376.3:c.2654+1923G>T	NP_001180305.1:n.2654+1923G>T
NR_149162.3:n.2551+1923G>T
NR_149163.3:n.2515+1923G>T