Canonical Allele Identifier: CA6329069

Gene: SORL1

Linked Data

• ClinVar Variation Id: 1661170
• ClinVar RCV Id: RCV002190826
• dbSNP Id: rs143717888
• ExAC: 11:121429477 G / A
• gnomAD v2: 11-121429477-G-A
• gnomAD v3: 11-121558768-G-A
• gnomAD v4: 11-121558768-G-A
• MyVariant Identifiers: chr11:g.121429477G>A (hg19) ; chr11:g.121558768G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121558768G>A , CM000673.2:g.121558768G>A	GRCh38
NC_000011.9:g.121429477G>A , CM000673.1:g.121429477G>A	GRCh37
NC_000011.8:g.120934687G>A	NCBI36
NG_023313.1:g.111517G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000260197.12:c.2841G>A MANE Select	ENSP00000260197.6:p.Thr947=
ENST00000260197.11:c.2841G>A	ENSP00000260197.6:p.Thr947=
ENST00000524873.1:n.569G>A
ENST00000529445.1:n.547G>A
NM_003105.5:c.2841G>A	NP_003096.1:p.Thr947=
XM_011542963.1:c.2841G>A	XP_011541265.1:p.Thr947=
XM_011542964.1:c.2841G>A	XP_011541266.1:p.Thr947=
XM_011542965.1:c.1302G>A	XP_011541267.1:p.Thr434=
XM_011542966.1:c.201G>A	XP_011541268.1:p.Thr67=
XM_011542963.3:c.2841G>A	XP_011541265.1:p.Thr947=
XM_011542965.3:c.1302G>A	XP_011541267.1:p.Thr434=
XM_017018169.2:c.2529G>A	XP_016873658.1:p.Thr843=
XM_017018170.2:c.2316G>A	XP_016873659.1:p.Thr772=
XM_017018171.1:c.2841G>A	XP_016873660.1:p.Thr947=
XM_017018172.2:c.201G>A	XP_016873661.1:p.Thr67=
NM_003105.6:c.2841G>A MANE Select	NP_003096.2:p.Thr947=