Canonical Allele Identifier: CA6328924

Gene: SORL1

Linked Data

• dbSNP Id: rs144545040
• ExAC: 11:121424785 G / A
• gnomAD v3: 11-121554076-G-A
• gnomAD v4: 11-121554076-G-A
• MyVariant Identifiers: chr11:g.121424785G>A (hg19) ; chr11:g.121554076G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121554076G>A , CM000673.2:g.121554076G>A	GRCh38
NC_000011.9:g.121424785G>A , CM000673.1:g.121424785G>A	GRCh37
NC_000011.8:g.120929995G>A	NCBI36
NG_023313.1:g.106825G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000260197.12:c.2406G>A MANE Select	ENSP00000260197.6:p.Leu802=
ENST00000260197.11:c.2406G>A	ENSP00000260197.6:p.Leu802=
NM_003105.5:c.2406G>A	NP_003096.1:p.Leu802=
XM_011542963.1:c.2406G>A	XP_011541265.1:p.Leu802=
XM_011542964.1:c.2406G>A	XP_011541266.1:p.Leu802=
XM_011542965.1:c.867G>A	XP_011541267.1:p.Leu289=
XM_011542963.3:c.2406G>A	XP_011541265.1:p.Leu802=
XM_011542965.3:c.867G>A	XP_011541267.1:p.Leu289=
XM_017018169.2:c.2094G>A	XP_016873658.1:p.Leu698=
XM_017018170.2:c.1881G>A	XP_016873659.1:p.Leu627=
XM_017018171.1:c.2406G>A	XP_016873660.1:p.Leu802=
XM_017018172.2:c.-143G>A	XP_016873661.1:n.-143G>A
NM_003105.6:c.2406G>A MANE Select	NP_003096.2:p.Leu802=