Canonical Allele Identifier: CA6328628

Gene: SORL1

Linked Data

• ClinVar Variation Id: 1895978
• ClinVar RCV Id: RCV002571830
• dbSNP Id: rs769355257
• ExAC: 11:121393347 A / G
• gnomAD v2: 11-121393347-A-G
• gnomAD v3: 11-121522638-A-G
• gnomAD v4: 11-121522638-A-G
• MyVariant Identifiers: chr11:g.121393347A>G (hg19) ; chr11:g.121522638A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121522638A>G , CM000673.2:g.121522638A>G	GRCh38
NC_000011.9:g.121393347A>G , CM000673.1:g.121393347A>G	GRCh37
NC_000011.8:g.120898557A>G	NCBI36
NG_023313.1:g.75387A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260197.12:c.1457A>G MANE Select	ENSP00000260197.6:p.Asn486Ser
ENST00000260197.11:c.1457A>G	ENSP00000260197.6:p.Asn486Ser
ENST00000532451.1:n.1409A>G
NM_003105.5:c.1457A>G	NP_003096.1:p.Asn486Ser
XM_011542963.1:c.1457A>G	XP_011541265.1:p.Asn486Ser
XM_011542964.1:c.1457A>G	XP_011541266.1:p.Asn486Ser
XM_011542965.1:c.-166A>G	XP_011541267.1:n.-166A>G
XM_011542963.3:c.1457A>G	XP_011541265.1:p.Asn486Ser
XM_011542965.3:c.-166A>G	XP_011541267.1:n.-166A>G
XM_017018169.2:c.1145A>G	XP_016873658.1:p.Asn382Ser
XM_017018170.2:c.932A>G	XP_016873659.1:p.Asn311Ser
XM_017018171.1:c.1457A>G	XP_016873660.1:p.Asn486Ser
NM_003105.6:c.1457A>G MANE Select	NP_003096.2:p.Asn486Ser