Canonical Allele Identifier: CA602229977

Gene: SORL1

Linked Data

• dbSNP Id: rs1355803201
• gnomAD v2: 11-121423425-A-G
• gnomAD v3: 11-121552716-A-G
• gnomAD v4: 11-121552716-A-G
• MyVariant Identifiers: chr11:g.121423425A>G (hg19) ; chr11:g.121552716A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121552716A>G , CM000673.2:g.121552716A>G	GRCh38
NC_000011.9:g.121423425A>G , CM000673.1:g.121423425A>G	GRCh37
NC_000011.8:g.120928635A>G	NCBI36
NG_023313.1:g.105465A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260197.12:c.2267-1221A>G MANE Select	ENSP00000260197.6:n.2267-1221A>G
ENST00000260197.11:c.2267-1221A>G	ENSP00000260197.6:n.2267-1221A>G
NM_003105.5:c.2267-1221A>G	NP_003096.1:n.2267-1221A>G
XM_011542963.1:c.2267-1221A>G	XP_011541265.1:n.2267-1221A>G
XM_011542964.1:c.2267-1221A>G	XP_011541266.1:n.2267-1221A>G
XM_011542965.1:c.728-1221A>G	XP_011541267.1:n.728-1221A>G
XM_011542963.3:c.2267-1221A>G	XP_011541265.1:n.2267-1221A>G
XM_011542965.3:c.728-1221A>G	XP_011541267.1:n.728-1221A>G
XM_017018169.2:c.1955-1221A>G	XP_016873658.1:n.1955-1221A>G
XM_017018170.2:c.1742-1221A>G	XP_016873659.1:n.1742-1221A>G
XM_017018171.1:c.2267-1221A>G	XP_016873660.1:n.2267-1221A>G
XM_017018172.2:c.-282-1221A>G	XP_016873661.1:n.-282-1221A>G
NM_003105.6:c.2267-1221A>G MANE Select	NP_003096.2:n.2267-1221A>G