Canonical Allele Identifier: CA3184437

Gene: TERT

Linked Data

• ClinVar Variation Id: 350633
• ClinVar RCV Id: RCV000274620 ; RCV000315371 ; RCV000367753 ; RCV002520299 ; RCV004544653
• dbSNP Id: rs375473823
• ExAC: 5:1266569 C / T
• gnomAD v2: 5-1266569-C-T
• gnomAD v3: 5-1266454-C-T
• gnomAD v4: 5-1266454-C-T
• MyVariant Identifiers: chr5:g.1266569C>T (hg19) ; chr5:g.1266454C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1266454C>T , CM000667.2:g.1266454C>T	GRCh38
NC_000005.9:g.1266569C>T , CM000667.1:g.1266569C>T	GRCh37
NC_000005.8:g.1319569C>T	NCBI36
NG_009265.1:g.33594G>A , LRG_343:g.33594G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310581.10:c.2654+10G>A MANE Select	ENSP00000309572.5:n.2654+10G>A
ENST00000656021.1:c.*2200+10G>A	ENSP00000499759.1:n.*2200+10G>A
ENST00000310581.9:c.2654+10G>A	ENSP00000309572.5:n.2654+10G>A
ENST00000334602.10:c.2654+10G>A	ENSP00000334346.6:n.2654+10G>A
ENST00000460137.6:c.2436+10G>A	ENSP00000425003.1:n.2436+10G>A
ENST00000484238.6:n.1285+10G>A
ENST00000503656.1:n.61+10G>A
ENST00000508104.2:c.2482G>A	ENSP00000426042.2:n.2482G>A
NM_001193376.1:c.2654+10G>A	NP_001180305.1:n.2654+10G>A
NM_198253.2:c.2654+10G>A , LRG_343t1:c.2654+10G>A	NP_937983.2:n.2654+10G>A
XM_011514104.1:c.1124+10G>A	XP_011512406.1:n.1124+10G>A
XM_011514105.1:c.1010+10G>A	XP_011512407.1:n.1010+10G>A
XM_011514106.1:c.1010+10G>A	XP_011512408.1:n.1010+10G>A
NR_149162.1:n.2530+10G>A
NR_149163.1:n.2494+10G>A
NM_001193376.2:c.2654+10G>A	NP_001180305.1:n.2654+10G>A
NM_198253.3:c.2654+10G>A MANE Select	NP_937983.2:n.2654+10G>A
NR_149162.2:n.2551+10G>A
NR_149163.2:n.2515+10G>A
NM_001193376.3:c.2654+10G>A	NP_001180305.1:n.2654+10G>A
NR_149162.3:n.2551+10G>A
NR_149163.3:n.2515+10G>A