Canonical Allele Identifier: CA2580075984

Gene: TMEM106B

Linked Data

• ClinVar Variation Id: 1965432
• ClinVar RCV Id: RCV002726809
• gnomAD v4: 7-12231120-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.12231120G>A , CM000669.2:g.12231120G>A	GRCh38
NC_000007.13:g.12270746G>A , CM000669.1:g.12270746G>A	GRCh37
NC_000007.12:g.12237271G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000444443.6:c.686+5G>A	ENSP00000401302.2:n.686+5G>A
ENST00000462754.2:n.314+5G>A
ENST00000704347.1:c.*76+5G>A	ENSP00000515858.1:n.*76+5G>A
ENST00000704348.1:c.545+5G>A	ENSP00000515859.1:n.545+5G>A
ENST00000704349.1:c.545+5G>A	ENSP00000515860.1:n.545+5G>A
ENST00000704416.1:c.392+5G>A	ENSP00000515892.1:n.392+5G>A
ENST00000704417.1:c.611+5G>A	ENSP00000515893.1:n.611+5G>A
ENST00000704455.1:c.686+5G>A	ENSP00000515905.1:n.686+5G>A
ENST00000704457.1:c.632+682G>A	ENSP00000515907.1:n.632+682G>A
ENST00000396668.8:c.686+5G>A MANE Select	ENSP00000379902.3:n.686+5G>A
ENST00000396667.7:c.686+5G>A	ENSP00000379901.2:n.686+5G>A
ENST00000396668.7:c.686+5G>A	ENSP00000379902.3:n.686+5G>A
ENST00000462754.1:n.135+5G>A
ENST00000492762.1:n.181G>A
NM_001134232.1:c.686+5G>A	NP_001127704.1:n.686+5G>A
NM_018374.3:c.686+5G>A	NP_060844.2:n.686+5G>A
XM_005249789.1:c.686+5G>A	XP_005249846.1:n.686+5G>A
NM_001134232.2:c.686+5G>A MANE Select	NP_001127704.1:n.686+5G>A
NM_018374.4:c.686+5G>A	NP_060844.2:n.686+5G>A