Canonical Allele Identifier: CA6329079

Gene: SORL1

Linked Data

• dbSNP Id: rs761061241
• ExAC: 11:121429537 T / A
• gnomAD v2: 11-121429537-T-A
• gnomAD v4: 11-121558828-T-A
• MyVariant Identifiers: chr11:g.121429537T>A (hg19) ; chr11:g.121558828T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121558828T>A , CM000673.2:g.121558828T>A	GRCh38
NC_000011.9:g.121429537T>A , CM000673.1:g.121429537T>A	GRCh37
NC_000011.8:g.120934747T>A	NCBI36
NG_023313.1:g.111577T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260197.12:c.2901T>A MANE Select	ENSP00000260197.6:p.Ala967=
ENST00000260197.11:c.2901T>A	ENSP00000260197.6:p.Ala967=
ENST00000529445.1:n.607T>A
NM_003105.5:c.2901T>A	NP_003096.1:p.Ala967=
XM_011542963.1:c.2901T>A	XP_011541265.1:p.Ala967=
XM_011542964.1:c.2901T>A	XP_011541266.1:p.Ala967=
XM_011542965.1:c.1362T>A	XP_011541267.1:p.Ala454=
XM_011542966.1:c.261T>A	XP_011541268.1:p.Ala87=
XM_011542963.3:c.2901T>A	XP_011541265.1:p.Ala967=
XM_011542965.3:c.1362T>A	XP_011541267.1:p.Ala454=
XM_017018169.2:c.2589T>A	XP_016873658.1:p.Ala863=
XM_017018170.2:c.2376T>A	XP_016873659.1:p.Ala792=
XM_017018171.1:c.2901T>A	XP_016873660.1:p.Ala967=
XM_017018172.2:c.261T>A	XP_016873661.1:p.Ala87=
NM_003105.6:c.2901T>A MANE Select	NP_003096.2:p.Ala967=