Canonical Allele Identifier: CA3184663

Gene: TERT

Linked Data

• ClinVar Variation Id: 416290
• ClinVar RCV Id: RCV000502349 ; RCV001151516 ; RCV001151514 ; RCV001151515 ; RCV001536535 ; RCV002418479 ; RCV002526490 ; RCV004541500
• dbSNP Id: rs373879259
• ExAC: 5:1279396 C / T
• gnomAD v2: 5-1279396-C-T
• gnomAD v3: 5-1279281-C-T
• gnomAD v4: 5-1279281-C-T
• MyVariant Identifiers: chr5:g.1279396C>T (hg19) ; chr5:g.1279281C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1279281C>T , CM000667.2:g.1279281C>T	GRCh38
NC_000005.9:g.1279396C>T , CM000667.1:g.1279396C>T	GRCh37
NC_000005.8:g.1332396C>T	NCBI36
NG_009265.1:g.20767G>A , LRG_343:g.20767G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310581.10:c.2130+10G>A MANE Select	ENSP00000309572.5:n.2130+10G>A
ENST00000656021.1:c.*1676+10G>A	ENSP00000499759.1:n.*1676+10G>A
ENST00000310581.9:c.2130+10G>A	ENSP00000309572.5:n.2130+10G>A
ENST00000334602.10:c.2130+10G>A	ENSP00000334346.6:n.2130+10G>A
ENST00000460137.6:c.2130+10G>A	ENSP00000425003.1:n.2130+10G>A
ENST00000484238.6:n.943+10G>A
ENST00000508104.2:c.2130+10G>A	ENSP00000426042.2:n.2130+10G>A
NM_001193376.1:c.2130+10G>A	NP_001180305.1:n.2130+10G>A
NM_198253.2:c.2130+10G>A , LRG_343t1:c.2130+10G>A	NP_937983.2:n.2130+10G>A
XM_011514104.1:c.600+10G>A	XP_011512406.1:n.600+10G>A
XM_011514105.1:c.486+10G>A	XP_011512407.1:n.486+10G>A
XM_011514106.1:c.486+10G>A	XP_011512408.1:n.486+10G>A
NR_149162.1:n.2188+10G>A
NR_149163.1:n.2188+10G>A
NM_001193376.2:c.2130+10G>A	NP_001180305.1:n.2130+10G>A
NM_198253.3:c.2130+10G>A MANE Select	NP_937983.2:n.2130+10G>A
NR_149162.2:n.2209+10G>A
NR_149163.2:n.2209+10G>A
NM_001193376.3:c.2130+10G>A	NP_001180305.1:n.2130+10G>A
NR_149162.3:n.2209+10G>A
NR_149163.3:n.2209+10G>A