Canonical Allele Identifier: CA6328983

Gene: SORL1

Linked Data - Expert Curation

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121555333G>A , CM000673.2:g.121555333G>A	GRCh38
NC_000011.9:g.121426042G>A , CM000673.1:g.121426042G>A	GRCh37
NC_000011.8:g.120931252G>A	NCBI36
NG_023313.1:g.108082G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260197.12:c.2571+15G>A MANE Select	ENSP00000260197.6:n.2571+15G>A
ENST00000260197.11:c.2571+15G>A	ENSP00000260197.6:n.2571+15G>A
ENST00000529445.1:n.277+15G>A
NM_003105.5:c.2571+15G>A	NP_003096.1:n.2571+15G>A
XM_011542963.1:c.2571+15G>A	XP_011541265.1:n.2571+15G>A
XM_011542964.1:c.2571+15G>A	XP_011541266.1:n.2571+15G>A
XM_011542965.1:c.1032+15G>A	XP_011541267.1:n.1032+15G>A
XM_011542966.1:c.23+15G>A	XP_011541268.1:n.23+15G>A
XM_011542963.3:c.2571+15G>A	XP_011541265.1:n.2571+15G>A
XM_011542965.3:c.1032+15G>A	XP_011541267.1:n.1032+15G>A
XM_017018169.2:c.2259+15G>A	XP_016873658.1:n.2259+15G>A
XM_017018170.2:c.2046+15G>A	XP_016873659.1:n.2046+15G>A
XM_017018171.1:c.2571+15G>A	XP_016873660.1:n.2571+15G>A
XM_017018172.2:c.23+15G>A	XP_016873661.1:n.23+15G>A
NM_003105.6:c.2571+15G>A MANE Select	NP_003096.2:n.2571+15G>A