Canonical Allele Identifier: CA13431345

Gene: SORL1

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121593379G>A , CM000673.2:g.121593379G>A	GRCh38
NC_000011.9:g.121464088G>A , CM000673.1:g.121464088G>A	GRCh37
NC_000011.8:g.120969298G>A	NCBI36
NG_023313.1:g.146128G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260197.12:c.4369+2223G>A MANE Select	ENSP00000260197.6:n.4369+2223G>A
ENST00000260197.11:c.4369+2223G>A	ENSP00000260197.6:n.4369+2223G>A
ENST00000525532.5:c.1201+2223G>A	ENSP00000434634.1:n.1201+2223G>A
ENST00000527934.1:c.214+2223G>A	ENSP00000435405.1:n.214+2223G>A
ENST00000532694.5:c.907+2223G>A	ENSP00000432131.1:n.907+2223G>A
ENST00000534286.5:c.1099+2223G>A	ENSP00000436447.1:n.1099+2223G>A
NM_003105.5:c.4369+2223G>A	NP_003096.1:n.4369+2223G>A
XM_011542963.1:c.4255+2223G>A	XP_011541265.1:n.4255+2223G>A
XM_011542964.1:c.4369+2223G>A	XP_011541266.1:n.4369+2223G>A
XM_011542965.1:c.2830+2223G>A	XP_011541267.1:n.2830+2223G>A
XM_011542966.1:c.1729+2223G>A	XP_011541268.1:n.1729+2223G>A
XM_011542967.1:c.1201+2223G>A	XP_011541269.1:n.1201+2223G>A
XM_011542963.3:c.4255+2223G>A	XP_011541265.1:n.4255+2223G>A
XM_011542965.3:c.2830+2223G>A	XP_011541267.1:n.2830+2223G>A
XM_011542967.3:c.1201+2223G>A	XP_011541269.1:n.1201+2223G>A
XM_017018169.2:c.4057+2223G>A	XP_016873658.1:n.4057+2223G>A
XM_017018170.2:c.3844+2223G>A	XP_016873659.1:n.3844+2223G>A
XM_017018171.1:c.4369+2223G>A	XP_016873660.1:n.4369+2223G>A
XM_017018172.2:c.1729+2223G>A	XP_016873661.1:n.1729+2223G>A
NM_003105.6:c.4369+2223G>A MANE Select	NP_003096.2:n.4369+2223G>A