Canonical Allele Identifier: CA2004910519
Gene: SORL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.121522720G= , CM000673.2:g.121522720G= GRCh38
NC_000011.9:g.121393429G= , CM000673.1:g.121393429G= GRCh37
NC_000011.8:g.120898639G= NCBI36
NG_023313.1:g.75469G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000260197.12:c.1522+17G= MANE Select ENSP00000260197.6:n.1522+17G=
ENST00000260197.11:c.1522+17G= ENSP00000260197.6:n.1522+17G=
ENST00000532451.1:n.1474+17G=
NM_003105.5:c.1522+17G= NP_003096.1:n.1522+17G=
XM_011542963.1:c.1522+17G= XP_011541265.1:n.1522+17G=
XM_011542964.1:c.1522+17G= XP_011541266.1:n.1522+17G=
XM_011542965.1:c.-101+17G= XP_011541267.1:n.-101+17G=
XM_011542963.3:c.1522+17G= XP_011541265.1:n.1522+17G=
XM_011542965.3:c.-101+17G= XP_011541267.1:n.-101+17G=
XM_017018169.2:c.1210+17G= XP_016873658.1:n.1210+17G=
XM_017018170.2:c.997+17G= XP_016873659.1:n.997+17G=
XM_017018171.1:c.1522+17G= XP_016873660.1:n.1522+17G=
NM_003105.6:c.1522+17G= MANE Select NP_003096.2:n.1522+17G=