Canonical Allele Identifier: CA229902695

Gene: SORL1

Linked Data

• dbSNP Id: rs983242044
• gnomAD v2: 11-121429306-G-A
• gnomAD v3: 11-121558597-G-A
• gnomAD v4: 11-121558597-G-A
• MyVariant Identifiers: chr11:g.121429306G>A (hg19) ; chr11:g.121558597G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121558597G>A , CM000673.2:g.121558597G>A	GRCh38
NC_000011.9:g.121429306G>A , CM000673.1:g.121429306G>A	GRCh37
NC_000011.8:g.120934516G>A	NCBI36
NG_023313.1:g.111346G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260197.12:c.2670G>A MANE Select	ENSP00000260197.6:p.Met890Ile
ENST00000260197.11:c.2670G>A	ENSP00000260197.6:p.Met890Ile
ENST00000524873.1:n.398G>A
ENST00000529445.1:n.376G>A
NM_003105.5:c.2670G>A	NP_003096.1:p.Met890Ile
XM_011542963.1:c.2670G>A	XP_011541265.1:p.Met890Ile
XM_011542964.1:c.2670G>A	XP_011541266.1:p.Met890Ile
XM_011542965.1:c.1131G>A	XP_011541267.1:p.Met377Ile
XM_011542966.1:c.30G>A	XP_011541268.1:p.Met10Ile
XM_011542963.3:c.2670G>A	XP_011541265.1:p.Met890Ile
XM_011542965.3:c.1131G>A	XP_011541267.1:p.Met377Ile
XM_017018169.2:c.2358G>A	XP_016873658.1:p.Met786Ile
XM_017018170.2:c.2145G>A	XP_016873659.1:p.Met715Ile
XM_017018171.1:c.2670G>A	XP_016873660.1:p.Met890Ile
XM_017018172.2:c.30G>A	XP_016873661.1:p.Met10Ile
NM_003105.6:c.2670G>A MANE Select	NP_003096.2:p.Met890Ile