Canonical Allele Identifier: CA6328630

Gene: SORL1

Linked Data

• dbSNP Id: rs781738511
• ExAC: 11:121393351 C / A
• gnomAD v2: 11-121393351-C-A
• gnomAD v4: 11-121522642-C-A
• MyVariant Identifiers: chr11:g.121393351C>A (hg19) ; chr11:g.121522642C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121522642C>A , CM000673.2:g.121522642C>A	GRCh38
NC_000011.9:g.121393351C>A , CM000673.1:g.121393351C>A	GRCh37
NC_000011.8:g.120898561C>A	NCBI36
NG_023313.1:g.75391C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260197.12:c.1461C>A MANE Select	ENSP00000260197.6:p.Leu487=
ENST00000260197.11:c.1461C>A	ENSP00000260197.6:p.Leu487=
ENST00000532451.1:n.1413C>A
NM_003105.5:c.1461C>A	NP_003096.1:p.Leu487=
XM_011542963.1:c.1461C>A	XP_011541265.1:p.Leu487=
XM_011542964.1:c.1461C>A	XP_011541266.1:p.Leu487=
XM_011542965.1:c.-162C>A	XP_011541267.1:n.-162C>A
XM_011542963.3:c.1461C>A	XP_011541265.1:p.Leu487=
XM_011542965.3:c.-162C>A	XP_011541267.1:n.-162C>A
XM_017018169.2:c.1149C>A	XP_016873658.1:p.Leu383=
XM_017018170.2:c.936C>A	XP_016873659.1:p.Leu312=
XM_017018171.1:c.1461C>A	XP_016873660.1:p.Leu487=
NM_003105.6:c.1461C>A MANE Select	NP_003096.2:p.Leu487=