Canonical Allele Identifier: CA383035827

Gene: SORL1

Linked Data

• MyVariant Identifiers: chr11:g.121429376C>A (hg19) ; chr11:g.121558667C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121558667C>A , CM000673.2:g.121558667C>A	GRCh38
NC_000011.9:g.121429376C>A , CM000673.1:g.121429376C>A	GRCh37
NC_000011.8:g.120934586C>A	NCBI36
NG_023313.1:g.111416C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260197.12:c.2740C>A MANE Select	ENSP00000260197.6:p.His914Asn
ENST00000260197.11:c.2740C>A	ENSP00000260197.6:p.His914Asn
ENST00000524873.1:n.468C>A
ENST00000529445.1:n.446C>A
NM_003105.5:c.2740C>A	NP_003096.1:p.His914Asn
XM_011542963.1:c.2740C>A	XP_011541265.1:p.His914Asn
XM_011542964.1:c.2740C>A	XP_011541266.1:p.His914Asn
XM_011542965.1:c.1201C>A	XP_011541267.1:p.His401Asn
XM_011542966.1:c.100C>A	XP_011541268.1:p.His34Asn
XM_011542963.3:c.2740C>A	XP_011541265.1:p.His914Asn
XM_011542965.3:c.1201C>A	XP_011541267.1:p.His401Asn
XM_017018169.2:c.2428C>A	XP_016873658.1:p.His810Asn
XM_017018170.2:c.2215C>A	XP_016873659.1:p.His739Asn
XM_017018171.1:c.2740C>A	XP_016873660.1:p.His914Asn
XM_017018172.2:c.100C>A	XP_016873661.1:p.His34Asn
NM_003105.6:c.2740C>A MANE Select	NP_003096.2:p.His914Asn