Canonical Allele Identifier: CA383035857

Gene: SORL1

Linked Data

• MyVariant Identifiers: chr11:g.121429389A>T (hg19) ; chr11:g.121558680A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121558680A>T , CM000673.2:g.121558680A>T	GRCh38
NC_000011.9:g.121429389A>T , CM000673.1:g.121429389A>T	GRCh37
NC_000011.8:g.120934599A>T	NCBI36
NG_023313.1:g.111429A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260197.12:c.2753A>T MANE Select	ENSP00000260197.6:p.Glu918Val
ENST00000260197.11:c.2753A>T	ENSP00000260197.6:p.Glu918Val
ENST00000524873.1:n.481A>T
ENST00000529445.1:n.459A>T
NM_003105.5:c.2753A>T	NP_003096.1:p.Glu918Val
XM_011542963.1:c.2753A>T	XP_011541265.1:p.Glu918Val
XM_011542964.1:c.2753A>T	XP_011541266.1:p.Glu918Val
XM_011542965.1:c.1214A>T	XP_011541267.1:p.Glu405Val
XM_011542966.1:c.113A>T	XP_011541268.1:p.Glu38Val
XM_011542963.3:c.2753A>T	XP_011541265.1:p.Glu918Val
XM_011542965.3:c.1214A>T	XP_011541267.1:p.Glu405Val
XM_017018169.2:c.2441A>T	XP_016873658.1:p.Glu814Val
XM_017018170.2:c.2228A>T	XP_016873659.1:p.Glu743Val
XM_017018171.1:c.2753A>T	XP_016873660.1:p.Glu918Val
XM_017018172.2:c.113A>T	XP_016873661.1:p.Glu38Val
NM_003105.6:c.2753A>T MANE Select	NP_003096.2:p.Glu918Val