Canonical Allele Identifier: CA443024513

Gene: TERT

Linked Data

• MyVariant Identifiers: chr5:g.1278815G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1278700G>T , CM000667.2:g.1278700G>T	GRCh38
NC_000005.9:g.1278815G>T , CM000667.1:g.1278815G>T	GRCh37
NC_000005.8:g.1331815G>T	NCBI36
NG_009265.1:g.21348C>A , LRG_343:g.21348C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310581.10:c.2227C>A MANE Select	ENSP00000309572.5:p.Arg743=
ENST00000656021.1:c.*1773C>A	ENSP00000499759.1:n.*1773C>A
ENST00000310581.9:c.2227C>A	ENSP00000309572.5:p.Arg743=
ENST00000334602.10:c.2227C>A	ENSP00000334346.6:p.Arg743=
ENST00000460137.6:c.2191C>A	ENSP00000425003.1:p.Arg731=
ENST00000484238.6:n.1040C>A
ENST00000508104.2:c.2227C>A	ENSP00000426042.2:p.Arg743=
NM_001193376.1:c.2227C>A	NP_001180305.1:p.Arg743=
NM_198253.2:c.2227C>A , LRG_343t1:c.2227C>A	NP_937983.2:p.Arg743=
XM_011514104.1:c.697C>A	XP_011512406.1:p.Arg233=
XM_011514105.1:c.583C>A	XP_011512407.1:p.Arg195=
XM_011514106.1:c.583C>A	XP_011512408.1:p.Arg195=
NR_149162.1:n.2285C>A
NR_149163.1:n.2249C>A
NM_001193376.2:c.2227C>A	NP_001180305.1:p.Arg743=
NM_198253.3:c.2227C>A MANE Select	NP_937983.2:p.Arg743=
NR_149162.2:n.2306C>A
NR_149163.2:n.2270C>A
NM_001193376.3:c.2227C>A	NP_001180305.1:p.Arg743=
NR_149162.3:n.2306C>A
NR_149163.3:n.2270C>A