Canonical Allele Identifier: CA2581052373

Gene: SORL1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121563719T>A , CM000673.2:g.121563719T>A	GRCh38
NC_000011.9:g.121434428T>A , CM000673.1:g.121434428T>A	GRCh37
NC_000011.8:g.120939638T>A	NCBI36
NG_023313.1:g.116468T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000260197.12:c.3050-3221T>A MANE Select	ENSP00000260197.6:n.3050-3221T>A
ENST00000260197.11:c.3050-3221T>A	ENSP00000260197.6:n.3050-3221T>A
NM_003105.5:c.3050-3221T>A	NP_003096.1:n.3050-3221T>A
XM_011542963.1:c.3050-3221T>A	XP_011541265.1:n.3050-3221T>A
XM_011542964.1:c.3050-3221T>A	XP_011541266.1:n.3050-3221T>A
XM_011542965.1:c.1511-3221T>A	XP_011541267.1:n.1511-3221T>A
XM_011542966.1:c.410-3221T>A	XP_011541268.1:n.410-3221T>A
XM_011542963.3:c.3050-3221T>A	XP_011541265.1:n.3050-3221T>A
XM_011542965.3:c.1511-3221T>A	XP_011541267.1:n.1511-3221T>A
XM_017018169.2:c.2738-3221T>A	XP_016873658.1:n.2738-3221T>A
XM_017018170.2:c.2525-3221T>A	XP_016873659.1:n.2525-3221T>A
XM_017018171.1:c.3050-3221T>A	XP_016873660.1:n.3050-3221T>A
XM_017018172.2:c.410-3221T>A	XP_016873661.1:n.410-3221T>A
NM_003105.6:c.3050-3221T>A MANE Select	NP_003096.2:n.3050-3221T>A