Canonical Allele Identifier: CA2004947514
Gene: SORL1 HGNC NCBI

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000260197.12:c.3558G= MANE Select ENSP00000260197.6:p.Trp1186=
ENST00000260197.11:c.3558G= ENSP00000260197.6:p.Trp1186=
ENST00000525532.5:c.390G= ENSP00000434634.1:p.Trp130=
ENST00000532694.5:c.96G= ENSP00000432131.1:p.Trp32=
ENST00000534286.5:c.288G= ENSP00000436447.1:p.Trp96=
NM_003105.5:c.3558G= NP_003096.1:p.Trp1186=
XM_011542963.1:c.3444G= XP_011541265.1:p.Trp1148=
XM_011542964.1:c.3558G= XP_011541266.1:p.Trp1186=
XM_011542965.1:c.2019G= XP_011541267.1:p.Trp673=
XM_011542966.1:c.918G= XP_011541268.1:p.Trp306=
XM_011542967.1:c.390G= XP_011541269.1:p.Trp130=
XM_011542963.3:c.3444G= XP_011541265.1:p.Trp1148=
XM_011542965.3:c.2019G= XP_011541267.1:p.Trp673=
XM_011542967.3:c.390G= XP_011541269.1:p.Trp130=
XM_017018169.2:c.3246G= XP_016873658.1:p.Trp1082=
XM_017018170.2:c.3033G= XP_016873659.1:p.Trp1011=
XM_017018171.1:c.3558G= XP_016873660.1:p.Trp1186=
XM_017018172.2:c.918G= XP_016873661.1:p.Trp306=
NM_003105.6:c.3558G= MANE Select NP_003096.2:p.Trp1186=