Canonical Allele Identifier: CA2004947546
Gene: SORL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.121577475G= , CM000673.2:g.121577475G= GRCh38
NC_000011.9:g.121448184G= , CM000673.1:g.121448184G= GRCh37
NC_000011.8:g.120953394G= NCBI36
NG_023313.1:g.130224G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000260197.12:c.3580+75G= MANE Select ENSP00000260197.6:n.3580+75G=
ENST00000260197.11:c.3580+75G= ENSP00000260197.6:n.3580+75G=
ENST00000525532.5:c.412+75G= ENSP00000434634.1:n.412+75G=
ENST00000532694.5:c.118+75G= ENSP00000432131.1:n.118+75G=
ENST00000534286.5:c.310+75G= ENSP00000436447.1:n.310+75G=
NM_003105.5:c.3580+75G= NP_003096.1:n.3580+75G=
XM_011542963.1:c.3466+75G= XP_011541265.1:n.3466+75G=
XM_011542964.1:c.3580+75G= XP_011541266.1:n.3580+75G=
XM_011542965.1:c.2041+75G= XP_011541267.1:n.2041+75G=
XM_011542966.1:c.940+75G= XP_011541268.1:n.940+75G=
XM_011542967.1:c.412+75G= XP_011541269.1:n.412+75G=
XM_011542963.3:c.3466+75G= XP_011541265.1:n.3466+75G=
XM_011542965.3:c.2041+75G= XP_011541267.1:n.2041+75G=
XM_011542967.3:c.412+75G= XP_011541269.1:n.412+75G=
XM_017018169.2:c.3268+75G= XP_016873658.1:n.3268+75G=
XM_017018170.2:c.3055+75G= XP_016873659.1:n.3055+75G=
XM_017018171.1:c.3580+75G= XP_016873660.1:n.3580+75G=
XM_017018172.2:c.940+75G= XP_016873661.1:n.940+75G=
NM_003105.6:c.3580+75G= MANE Select NP_003096.2:n.3580+75G=