Canonical Allele Identifier: CA383036055

Gene: SORL1

Linked Data

• dbSNP Id: rs143571823
• gnomAD v4: 11-121558767-C-A
• MyVariant Identifiers: chr11:g.121429476C>A (hg19) ; chr11:g.121558767C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121558767C>A , CM000673.2:g.121558767C>A	GRCh38
NC_000011.9:g.121429476C>A , CM000673.1:g.121429476C>A	GRCh37
NC_000011.8:g.120934686C>A	NCBI36
NG_023313.1:g.111516C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000260197.12:c.2840C>A MANE Select	ENSP00000260197.6:p.Thr947Lys
ENST00000260197.11:c.2840C>A	ENSP00000260197.6:p.Thr947Lys
ENST00000524873.1:n.568C>A
ENST00000529445.1:n.546C>A
NM_003105.5:c.2840C>A	NP_003096.1:p.Thr947Lys
XM_011542963.1:c.2840C>A	XP_011541265.1:p.Thr947Lys
XM_011542964.1:c.2840C>A	XP_011541266.1:p.Thr947Lys
XM_011542965.1:c.1301C>A	XP_011541267.1:p.Thr434Lys
XM_011542966.1:c.200C>A	XP_011541268.1:p.Thr67Lys
XM_011542963.3:c.2840C>A	XP_011541265.1:p.Thr947Lys
XM_011542965.3:c.1301C>A	XP_011541267.1:p.Thr434Lys
XM_017018169.2:c.2528C>A	XP_016873658.1:p.Thr843Lys
XM_017018170.2:c.2315C>A	XP_016873659.1:p.Thr772Lys
XM_017018171.1:c.2840C>A	XP_016873660.1:p.Thr947Lys
XM_017018172.2:c.200C>A	XP_016873661.1:p.Thr67Lys
NM_003105.6:c.2840C>A MANE Select	NP_003096.2:p.Thr947Lys