Canonical Allele Identifier: CA383024746

Gene: SORL1

Linked Data

• dbSNP Id: rs372306435
• gnomAD v4: 11-121522693-C-G
• MyVariant Identifiers: chr11:g.121393402C>G (hg19) ; chr11:g.121522693C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121522693C>G , CM000673.2:g.121522693C>G	GRCh38
NC_000011.9:g.121393402C>G , CM000673.1:g.121393402C>G	GRCh37
NC_000011.8:g.120898612C>G	NCBI36
NG_023313.1:g.75442C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260197.12:c.1512C>G MANE Select	ENSP00000260197.6:p.Ile504Met
ENST00000260197.11:c.1512C>G	ENSP00000260197.6:p.Ile504Met
ENST00000532451.1:n.1464C>G
NM_003105.5:c.1512C>G	NP_003096.1:p.Ile504Met
XM_011542963.1:c.1512C>G	XP_011541265.1:p.Ile504Met
XM_011542964.1:c.1512C>G	XP_011541266.1:p.Ile504Met
XM_011542965.1:c.-111C>G	XP_011541267.1:n.-111C>G
XM_011542963.3:c.1512C>G	XP_011541265.1:p.Ile504Met
XM_011542965.3:c.-111C>G	XP_011541267.1:n.-111C>G
XM_017018169.2:c.1200C>G	XP_016873658.1:p.Ile400Met
XM_017018170.2:c.987C>G	XP_016873659.1:p.Ile329Met
XM_017018171.1:c.1512C>G	XP_016873660.1:p.Ile504Met
NM_003105.6:c.1512C>G MANE Select	NP_003096.2:p.Ile504Met