Canonical Allele Identifier: CA13400142

Gene: SORL1

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121612229C>A , CM000673.2:g.121612229C>A	GRCh38
NC_000011.9:g.121482938C>A , CM000673.1:g.121482938C>A	GRCh37
NC_000011.8:g.120988148C>A	NCBI36
NG_023313.1:g.164978C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260197.12:c.5323-507C>A MANE Select	ENSP00000260197.6:n.5323-507C>A
ENST00000260197.11:c.5323-507C>A	ENSP00000260197.6:n.5323-507C>A
ENST00000525532.5:c.2155-507C>A	ENSP00000434634.1:n.2155-507C>A
ENST00000527934.1:c.1168-507C>A	ENSP00000435405.1:n.1168-507C>A
ENST00000528339.5:n.2960-507C>A
ENST00000532694.5:c.1861-507C>A	ENSP00000432131.1:n.1861-507C>A
ENST00000534286.5:c.2053-507C>A	ENSP00000436447.1:n.2053-507C>A
ENST00000534754.5:n.978C>A
NM_003105.5:c.5323-507C>A	NP_003096.1:n.5323-507C>A
XM_011542963.1:c.5209-507C>A	XP_011541265.1:n.5209-507C>A
XM_011542965.1:c.3784-507C>A	XP_011541267.1:n.3784-507C>A
XM_011542966.1:c.2683-507C>A	XP_011541268.1:n.2683-507C>A
XM_011542967.1:c.2155-507C>A	XP_011541269.1:n.2155-507C>A
XM_011542963.3:c.5209-507C>A	XP_011541265.1:n.5209-507C>A
XM_011542965.3:c.3784-507C>A	XP_011541267.1:n.3784-507C>A
XM_011542967.3:c.2155-507C>A	XP_011541269.1:n.2155-507C>A
XM_017018169.2:c.5011-507C>A	XP_016873658.1:n.5011-507C>A
XM_017018170.2:c.4798-507C>A	XP_016873659.1:n.4798-507C>A
XM_017018172.2:c.2683-507C>A	XP_016873661.1:n.2683-507C>A
NM_003105.6:c.5323-507C>A MANE Select	NP_003096.2:n.5323-507C>A