Canonical Allele Identifier: CA359079787

Gene: TERT

Linked Data

• gnomAD v4: 5-1278798-T-A
• MyVariant Identifiers: chr5:g.1278913T>A (hg19) ; chr5:g.1278798T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1278798T>A , CM000667.2:g.1278798T>A	GRCh38
NC_000005.9:g.1278913T>A , CM000667.1:g.1278913T>A	GRCh37
NC_000005.8:g.1331913T>A	NCBI36
NG_009265.1:g.21250A>T , LRG_343:g.21250A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310581.10:c.2131-2A>T MANE Select	ENSP00000309572.5:n.2131-2A>T
ENST00000656021.1:c.*1677-2A>T	ENSP00000499759.1:n.*1677-2A>T
ENST00000310581.9:c.2131-2A>T	ENSP00000309572.5:n.2131-2A>T
ENST00000334602.10:c.2131-2A>T	ENSP00000334346.6:n.2131-2A>T
ENST00000460137.6:c.2131-38A>T	ENSP00000425003.1:n.2131-38A>T
ENST00000484238.6:n.944-2A>T
ENST00000508104.2:c.2131-2A>T	ENSP00000426042.2:n.2131-2A>T
NM_001193376.1:c.2131-2A>T	NP_001180305.1:n.2131-2A>T
NM_198253.2:c.2131-2A>T , LRG_343t1:c.2131-2A>T	NP_937983.2:n.2131-2A>T
XM_011514104.1:c.601-2A>T	XP_011512406.1:n.601-2A>T
XM_011514105.1:c.487-2A>T	XP_011512407.1:n.487-2A>T
XM_011514106.1:c.487-2A>T	XP_011512408.1:n.487-2A>T
NR_149162.1:n.2189-2A>T
NR_149163.1:n.2189-38A>T
NM_001193376.2:c.2131-2A>T	NP_001180305.1:n.2131-2A>T
NM_198253.3:c.2131-2A>T MANE Select	NP_937983.2:n.2131-2A>T
NR_149162.2:n.2210-2A>T
NR_149163.2:n.2210-38A>T
NM_001193376.3:c.2131-2A>T	NP_001180305.1:n.2131-2A>T
NR_149162.3:n.2210-2A>T
NR_149163.3:n.2210-38A>T