Canonical Allele Identifier: CA2004910316

Gene: SORL1

Linked Data

• dbSNP Id: rs1591310666
• gnomAD v4: 11-121522448-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121522448G>C , CM000673.2:g.121522448G>C	GRCh38
NC_000011.9:g.121393157G>C , CM000673.1:g.121393157G>C	GRCh37
NC_000011.8:g.120898367G>C	NCBI36
NG_023313.1:g.75197G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260197.12:c.1405-138G>C MANE Select	ENSP00000260197.6:n.1405-138G>C
ENST00000260197.11:c.1405-138G>C	ENSP00000260197.6:n.1405-138G>C
ENST00000532451.1:n.1357-138G>C
NM_003105.5:c.1405-138G>C	NP_003096.1:n.1405-138G>C
XM_011542963.1:c.1405-138G>C	XP_011541265.1:n.1405-138G>C
XM_011542964.1:c.1405-138G>C	XP_011541266.1:n.1405-138G>C
XM_011542965.1:c.-218-138G>C	XP_011541267.1:n.-218-138G>C
XM_011542963.3:c.1405-138G>C	XP_011541265.1:n.1405-138G>C
XM_011542965.3:c.-218-138G>C	XP_011541267.1:n.-218-138G>C
XM_017018169.2:c.1093-138G>C	XP_016873658.1:n.1093-138G>C
XM_017018170.2:c.880-138G>C	XP_016873659.1:n.880-138G>C
XM_017018171.1:c.1405-138G>C	XP_016873660.1:n.1405-138G>C
NM_003105.6:c.1405-138G>C MANE Select	NP_003096.2:n.1405-138G>C