Canonical Allele Identifier: CA229916273

Gene: SORL1

Linked Data

• dbSNP Id: rs750043373
• MyVariant Identifiers: chr11:g.121445955C>A (hg19) ; chr11:g.121575246C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121575246C>A , CM000673.2:g.121575246C>A	GRCh38
NC_000011.9:g.121445955C>A , CM000673.1:g.121445955C>A	GRCh37
NC_000011.8:g.120951165C>A	NCBI36
NG_023313.1:g.127995C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260197.12:c.3460+883C>A MANE Select	ENSP00000260197.6:n.3460+883C>A
ENST00000260197.11:c.3460+883C>A	ENSP00000260197.6:n.3460+883C>A
ENST00000525532.5:c.292+883C>A	ENSP00000434634.1:n.292+883C>A
NM_003105.5:c.3460+883C>A	NP_003096.1:n.3460+883C>A
XM_011542963.1:c.3346+883C>A	XP_011541265.1:n.3346+883C>A
XM_011542964.1:c.3460+883C>A	XP_011541266.1:n.3460+883C>A
XM_011542965.1:c.1921+883C>A	XP_011541267.1:n.1921+883C>A
XM_011542966.1:c.820+883C>A	XP_011541268.1:n.820+883C>A
XM_011542967.1:c.292+883C>A	XP_011541269.1:n.292+883C>A
XM_011542963.3:c.3346+883C>A	XP_011541265.1:n.3346+883C>A
XM_011542965.3:c.1921+883C>A	XP_011541267.1:n.1921+883C>A
XM_011542967.3:c.292+883C>A	XP_011541269.1:n.292+883C>A
XM_017018169.2:c.3148+883C>A	XP_016873658.1:n.3148+883C>A
XM_017018170.2:c.2935+883C>A	XP_016873659.1:n.2935+883C>A
XM_017018171.1:c.3460+883C>A	XP_016873660.1:n.3460+883C>A
XM_017018172.2:c.820+883C>A	XP_016873661.1:n.820+883C>A
NM_003105.6:c.3460+883C>A MANE Select	NP_003096.2:n.3460+883C>A