Canonical Allele Identifier: CA383024939

Gene: SORL1

Linked Data

• dbSNP Id: rs1278828502
• gnomAD v2: 11-121448087-G-A
• MyVariant Identifiers: chr11:g.121448087G>A (hg19) ; chr11:g.121577378G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121577378G>A , CM000673.2:g.121577378G>A	GRCh38
NC_000011.9:g.121448087G>A , CM000673.1:g.121448087G>A	GRCh37
NC_000011.8:g.120953297G>A	NCBI36
NG_023313.1:g.130127G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260197.12:c.3558G>A MANE Select	ENSP00000260197.6:p.Trp1186Ter
ENST00000260197.11:c.3558G>A	ENSP00000260197.6:p.Trp1186Ter
ENST00000525532.5:c.390G>A	ENSP00000434634.1:p.Trp130Ter
ENST00000532694.5:c.96G>A	ENSP00000432131.1:p.Trp32Ter
ENST00000534286.5:c.288G>A	ENSP00000436447.1:p.Trp96Ter
NM_003105.5:c.3558G>A	NP_003096.1:p.Trp1186Ter
XM_011542963.1:c.3444G>A	XP_011541265.1:p.Trp1148Ter
XM_011542964.1:c.3558G>A	XP_011541266.1:p.Trp1186Ter
XM_011542965.1:c.2019G>A	XP_011541267.1:p.Trp673Ter
XM_011542966.1:c.918G>A	XP_011541268.1:p.Trp306Ter
XM_011542967.1:c.390G>A	XP_011541269.1:p.Trp130Ter
XM_011542963.3:c.3444G>A	XP_011541265.1:p.Trp1148Ter
XM_011542965.3:c.2019G>A	XP_011541267.1:p.Trp673Ter
XM_011542967.3:c.390G>A	XP_011541269.1:p.Trp130Ter
XM_017018169.2:c.3246G>A	XP_016873658.1:p.Trp1082Ter
XM_017018170.2:c.3033G>A	XP_016873659.1:p.Trp1011Ter
XM_017018171.1:c.3558G>A	XP_016873660.1:p.Trp1186Ter
XM_017018172.2:c.918G>A	XP_016873661.1:p.Trp306Ter
NM_003105.6:c.3558G>A MANE Select	NP_003096.2:p.Trp1186Ter