Canonical Allele Identifier: CA383024681

Gene: SORL1

Linked Data

• MyVariant Identifiers: chr11:g.121393383A>C (hg19) ; chr11:g.121522674A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121522674A>C , CM000673.2:g.121522674A>C	GRCh38
NC_000011.9:g.121393383A>C , CM000673.1:g.121393383A>C	GRCh37
NC_000011.8:g.120898593A>C	NCBI36
NG_023313.1:g.75423A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260197.12:c.1493A>C MANE Select	ENSP00000260197.6:p.Glu498Ala
ENST00000260197.11:c.1493A>C	ENSP00000260197.6:p.Glu498Ala
ENST00000532451.1:n.1445A>C
NM_003105.5:c.1493A>C	NP_003096.1:p.Glu498Ala
XM_011542963.1:c.1493A>C	XP_011541265.1:p.Glu498Ala
XM_011542964.1:c.1493A>C	XP_011541266.1:p.Glu498Ala
XM_011542965.1:c.-130A>C	XP_011541267.1:n.-130A>C
XM_011542963.3:c.1493A>C	XP_011541265.1:p.Glu498Ala
XM_011542965.3:c.-130A>C	XP_011541267.1:n.-130A>C
XM_017018169.2:c.1181A>C	XP_016873658.1:p.Glu394Ala
XM_017018170.2:c.968A>C	XP_016873659.1:p.Glu323Ala
XM_017018171.1:c.1493A>C	XP_016873660.1:p.Glu498Ala
NM_003105.6:c.1493A>C MANE Select	NP_003096.2:p.Glu498Ala