Canonical Allele Identifier: CA366858893

Gene: TMEM106B

Linked Data

• ClinVar Variation Id: 523236
• ClinVar RCV Id: RCV000626490 ; RCV001561829
• dbSNP Id: rs1554310600
• COSMIC: COSM3877707
• MyVariant Identifiers: chr7:g.12271530G>A (hg19) ; chr7:g.12231904G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.12231904G>A , CM000669.2:g.12231904G>A	GRCh38
NC_000007.13:g.12271530G>A , CM000669.1:g.12271530G>A	GRCh37
NC_000007.12:g.12238055G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000444443.6:c.754G>A	ENSP00000401302.2:p.Asp252Asn
ENST00000462754.2:n.382G>A
ENST00000704347.1:c.*144G>A	ENSP00000515858.1:n.*144G>A
ENST00000704348.1:c.613G>A	ENSP00000515859.1:p.Asp205Asn
ENST00000704349.1:c.613G>A	ENSP00000515860.1:p.Asp205Asn
ENST00000704416.1:c.460G>A	ENSP00000515892.1:p.Asp154Asn
ENST00000704417.1:c.679G>A	ENSP00000515893.1:p.Asp227Asn
ENST00000704455.1:c.754G>A	ENSP00000515905.1:p.Asp252Asn
ENST00000704457.1:c.*67G>A	ENSP00000515907.1:n.*67G>A
ENST00000396668.8:c.754G>A MANE Select	ENSP00000379902.3:p.Asp252Asn
ENST00000396667.7:c.754G>A	ENSP00000379901.2:p.Asp252Asn
ENST00000396668.7:c.754G>A	ENSP00000379902.3:p.Asp252Asn
ENST00000462754.1:n.203G>A
NM_001134232.1:c.754G>A	NP_001127704.1:p.Asp252Asn
NM_018374.3:c.754G>A	NP_060844.2:p.Asp252Asn
XM_005249789.1:c.754G>A	XP_005249846.1:p.Asp252Asn
NM_001134232.2:c.754G>A MANE Select	NP_001127704.1:p.Asp252Asn
NM_018374.4:c.754G>A	NP_060844.2:p.Asp252Asn