Canonical Allele Identifier: CA383036182

Gene: SORL1

Linked Data

• MyVariant Identifiers: chr11:g.121429535G>A (hg19) ; chr11:g.121558826G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121558826G>A , CM000673.2:g.121558826G>A	GRCh38
NC_000011.9:g.121429535G>A , CM000673.1:g.121429535G>A	GRCh37
NC_000011.8:g.120934745G>A	NCBI36
NG_023313.1:g.111575G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260197.12:c.2899G>A MANE Select	ENSP00000260197.6:p.Ala967Thr
ENST00000260197.11:c.2899G>A	ENSP00000260197.6:p.Ala967Thr
ENST00000529445.1:n.605G>A
NM_003105.5:c.2899G>A	NP_003096.1:p.Ala967Thr
XM_011542963.1:c.2899G>A	XP_011541265.1:p.Ala967Thr
XM_011542964.1:c.2899G>A	XP_011541266.1:p.Ala967Thr
XM_011542965.1:c.1360G>A	XP_011541267.1:p.Ala454Thr
XM_011542966.1:c.259G>A	XP_011541268.1:p.Ala87Thr
XM_011542963.3:c.2899G>A	XP_011541265.1:p.Ala967Thr
XM_011542965.3:c.1360G>A	XP_011541267.1:p.Ala454Thr
XM_017018169.2:c.2587G>A	XP_016873658.1:p.Ala863Thr
XM_017018170.2:c.2374G>A	XP_016873659.1:p.Ala792Thr
XM_017018171.1:c.2899G>A	XP_016873660.1:p.Ala967Thr
XM_017018172.2:c.259G>A	XP_016873661.1:p.Ala87Thr
NM_003105.6:c.2899G>A MANE Select	NP_003096.2:p.Ala967Thr