Canonical Allele Identifier: CA383024519

Gene: SORL1

Linked Data

• MyVariant Identifiers: chr11:g.121393332T>A (hg19) ; chr11:g.121522623T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121522623T>A , CM000673.2:g.121522623T>A	GRCh38
NC_000011.9:g.121393332T>A , CM000673.1:g.121393332T>A	GRCh37
NC_000011.8:g.120898542T>A	NCBI36
NG_023313.1:g.75372T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260197.12:c.1442T>A MANE Select	ENSP00000260197.6:p.Leu481His
ENST00000260197.11:c.1442T>A	ENSP00000260197.6:p.Leu481His
ENST00000532451.1:n.1394T>A
NM_003105.5:c.1442T>A	NP_003096.1:p.Leu481His
XM_011542963.1:c.1442T>A	XP_011541265.1:p.Leu481His
XM_011542964.1:c.1442T>A	XP_011541266.1:p.Leu481His
XM_011542965.1:c.-181T>A	XP_011541267.1:n.-181T>A
XM_011542963.3:c.1442T>A	XP_011541265.1:p.Leu481His
XM_011542965.3:c.-181T>A	XP_011541267.1:n.-181T>A
XM_017018169.2:c.1130T>A	XP_016873658.1:p.Leu377His
XM_017018170.2:c.917T>A	XP_016873659.1:p.Leu306His
XM_017018171.1:c.1442T>A	XP_016873660.1:p.Leu481His
NM_003105.6:c.1442T>A MANE Select	NP_003096.2:p.Leu481His