Canonical Allele Identifier: CA3184216

Gene: TERT

Linked Data

• ClinVar Variation Id: 471888
• ClinVar RCV Id: RCV002256386 ; RCV002307542 ; RCV002530163 ; RCV002324024
• dbSNP Id: rs764602705
• ExAC: 5:1253940 G / A
• gnomAD v2: 5-1253940-G-A
• gnomAD v3: 5-1253825-G-A
• gnomAD v4: 5-1253825-G-A
• COSMIC: COSM3135458 ; COSM3135459
• MyVariant Identifiers: chr5:g.1253940G>A (hg19) ; chr5:g.1253825G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1253825G>A , CM000667.2:g.1253825G>A	GRCh38
NC_000005.9:g.1253940G>A , CM000667.1:g.1253940G>A	GRCh37
NC_000005.8:g.1306940G>A	NCBI36
NG_009265.1:g.46223C>T , LRG_343:g.46223C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310581.10:c.3302C>T MANE Select	ENSP00000309572.5:p.Thr1101Met
ENST00000656021.1:c.*2848C>T	ENSP00000499759.1:n.*2848C>T
ENST00000310581.9:c.3302C>T	ENSP00000309572.5:p.Thr1101Met
ENST00000334602.10:c.3113C>T	ENSP00000334346.6:p.Thr1038Met
ENST00000460137.6:c.2895C>T	ENSP00000425003.1:n.2895C>T
ENST00000484238.6:n.1744C>T
NM_001193376.1:c.3113C>T	NP_001180305.1:p.Thr1038Met
NM_198253.2:c.3302C>T , LRG_343t1:c.3302C>T	NP_937983.2:p.Thr1101Met
XM_011514104.1:c.1772C>T	XP_011512406.1:p.Thr591Met
XM_011514105.1:c.1658C>T	XP_011512407.1:p.Thr553Met
XM_011514106.1:c.1658C>T	XP_011512408.1:p.Thr553Met
XR_925683.1:n.287-849G>A
NR_149162.1:n.2989C>T
NR_149163.1:n.2953C>T
NM_001193376.2:c.3113C>T	NP_001180305.1:p.Thr1038Met
NM_198253.3:c.3302C>T MANE Select	NP_937983.2:p.Thr1101Met
NR_149162.2:n.3010C>T
NR_149163.2:n.2974C>T
NM_001193376.3:c.3113C>T	NP_001180305.1:p.Thr1038Met
NR_149162.3:n.3010C>T
NR_149163.3:n.2974C>T