Canonical Allele Identifier: CA383035852

Gene: SORL1

Linked Data

• ClinVar Variation Id: 2709068
• ClinVar RCV Id: RCV003547821
• gnomAD v4: 11-121558679-G-A
• MyVariant Identifiers: chr11:g.121429388G>A (hg19) ; chr11:g.121558679G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121558679G>A , CM000673.2:g.121558679G>A	GRCh38
NC_000011.9:g.121429388G>A , CM000673.1:g.121429388G>A	GRCh37
NC_000011.8:g.120934598G>A	NCBI36
NG_023313.1:g.111428G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260197.12:c.2752G>A MANE Select	ENSP00000260197.6:p.Glu918Lys
ENST00000260197.11:c.2752G>A	ENSP00000260197.6:p.Glu918Lys
ENST00000524873.1:n.480G>A
ENST00000529445.1:n.458G>A
NM_003105.5:c.2752G>A	NP_003096.1:p.Glu918Lys
XM_011542963.1:c.2752G>A	XP_011541265.1:p.Glu918Lys
XM_011542964.1:c.2752G>A	XP_011541266.1:p.Glu918Lys
XM_011542965.1:c.1213G>A	XP_011541267.1:p.Glu405Lys
XM_011542966.1:c.112G>A	XP_011541268.1:p.Glu38Lys
XM_011542963.3:c.2752G>A	XP_011541265.1:p.Glu918Lys
XM_011542965.3:c.1213G>A	XP_011541267.1:p.Glu405Lys
XM_017018169.2:c.2440G>A	XP_016873658.1:p.Glu814Lys
XM_017018170.2:c.2227G>A	XP_016873659.1:p.Glu743Lys
XM_017018171.1:c.2752G>A	XP_016873660.1:p.Glu918Lys
XM_017018172.2:c.112G>A	XP_016873661.1:p.Glu38Lys
NM_003105.6:c.2752G>A MANE Select	NP_003096.2:p.Glu918Lys