Canonical Allele Identifier: CA942949572

Gene: SORL1

Linked Data

• gnomAD v3: 11-121496845-A-C
• gnomAD v4: 11-121496845-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121496845A>C , CM000673.2:g.121496845A>C	GRCh38
NC_000011.9:g.121367554A>C , CM000673.1:g.121367554A>C	GRCh37
NC_000011.8:g.120872764A>C	NCBI36
NG_023313.1:g.49594A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260197.12:c.759-24A>C MANE Select	ENSP00000260197.6:n.759-24A>C
ENST00000260197.11:c.759-24A>C	ENSP00000260197.6:n.759-24A>C
ENST00000532451.1:n.711-24A>C
NM_003105.5:c.759-24A>C	NP_003096.1:n.759-24A>C
XM_011542963.1:c.759-24A>C	XP_011541265.1:n.759-24A>C
XM_011542964.1:c.759-24A>C	XP_011541266.1:n.759-24A>C
XM_011542963.3:c.759-24A>C	XP_011541265.1:n.759-24A>C
XM_017018169.2:c.447-24A>C	XP_016873658.1:n.447-24A>C
XM_017018170.2:c.234-24A>C	XP_016873659.1:n.234-24A>C
XM_017018171.1:c.759-24A>C	XP_016873660.1:n.759-24A>C
NM_003105.6:c.759-24A>C MANE Select	NP_003096.2:n.759-24A>C