Canonical Allele Identifier: CA477218126

Gene: SORL1

Linked Data

• MyVariant Identifiers: chr11:g.121393411T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121522702T>A , CM000673.2:g.121522702T>A	GRCh38
NC_000011.9:g.121393411T>A , CM000673.1:g.121393411T>A	GRCh37
NC_000011.8:g.120898621T>A	NCBI36
NG_023313.1:g.75451T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260197.12:c.1521T>A MANE Select	ENSP00000260197.6:p.Thr507=
ENST00000260197.11:c.1521T>A	ENSP00000260197.6:p.Thr507=
ENST00000532451.1:n.1473T>A
NM_003105.5:c.1521T>A	NP_003096.1:p.Thr507=
XM_011542963.1:c.1521T>A	XP_011541265.1:p.Thr507=
XM_011542964.1:c.1521T>A	XP_011541266.1:p.Thr507=
XM_011542965.1:c.-102T>A	XP_011541267.1:n.-102T>A
XM_011542963.3:c.1521T>A	XP_011541265.1:p.Thr507=
XM_011542965.3:c.-102T>A	XP_011541267.1:n.-102T>A
XM_017018169.2:c.1209T>A	XP_016873658.1:p.Thr403=
XM_017018170.2:c.996T>A	XP_016873659.1:p.Thr332=
XM_017018171.1:c.1521T>A	XP_016873660.1:p.Thr507=
NM_003105.6:c.1521T>A MANE Select	NP_003096.2:p.Thr507=