Canonical Allele Identifier: CA359080764

Gene: TERT

Linked Data

• gnomAD v4: 5-1279431-C-A
• MyVariant Identifiers: chr5:g.1279546C>A (hg19) ; chr5:g.1279431C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1279431C>A , CM000667.2:g.1279431C>A	GRCh38
NC_000005.9:g.1279546C>A , CM000667.1:g.1279546C>A	GRCh37
NC_000005.8:g.1332546C>A	NCBI36
NG_009265.1:g.20617G>T , LRG_343:g.20617G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310581.10:c.1990G>T MANE Select	ENSP00000309572.5:p.Val664Leu
ENST00000656021.1:c.*1536G>T	ENSP00000499759.1:n.*1536G>T
ENST00000310581.9:c.1990G>T	ENSP00000309572.5:p.Val664Leu
ENST00000334602.10:c.1990G>T	ENSP00000334346.6:p.Val664Leu
ENST00000460137.6:c.1990G>T	ENSP00000425003.1:p.Val664Leu
ENST00000484238.6:n.803G>T
ENST00000508104.2:c.1990G>T	ENSP00000426042.2:p.Val664Leu
NM_001193376.1:c.1990G>T	NP_001180305.1:p.Val664Leu
NM_198253.2:c.1990G>T , LRG_343t1:c.1990G>T	NP_937983.2:p.Val664Leu
XM_011514104.1:c.460G>T	XP_011512406.1:p.Val154Leu
XM_011514105.1:c.346G>T	XP_011512407.1:p.Val116Leu
XM_011514106.1:c.346G>T	XP_011512408.1:p.Val116Leu
NR_149162.1:n.2048G>T
NR_149163.1:n.2048G>T
NM_001193376.2:c.1990G>T	NP_001180305.1:p.Val664Leu
NM_198253.3:c.1990G>T MANE Select	NP_937983.2:p.Val664Leu
NR_149162.2:n.2069G>T
NR_149163.2:n.2069G>T
NM_001193376.3:c.1990G>T	NP_001180305.1:p.Val664Leu
NR_149162.3:n.2069G>T
NR_149163.3:n.2069G>T