Canonical Allele Identifier: CA2004916894
Gene: SORL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.121553043T= , CM000673.2:g.121553043T= GRCh38
NC_000011.9:g.121423752T= , CM000673.1:g.121423752T= GRCh37
NC_000011.8:g.120928962T= NCBI36
NG_023313.1:g.105792T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000260197.12:c.2267-894T= MANE Select ENSP00000260197.6:n.2267-894T=
ENST00000260197.11:c.2267-894T= ENSP00000260197.6:n.2267-894T=
NM_003105.5:c.2267-894T= NP_003096.1:n.2267-894T=
XM_011542963.1:c.2267-894T= XP_011541265.1:n.2267-894T=
XM_011542964.1:c.2267-894T= XP_011541266.1:n.2267-894T=
XM_011542965.1:c.728-894T= XP_011541267.1:n.728-894T=
XM_011542963.3:c.2267-894T= XP_011541265.1:n.2267-894T=
XM_011542965.3:c.728-894T= XP_011541267.1:n.728-894T=
XM_017018169.2:c.1955-894T= XP_016873658.1:n.1955-894T=
XM_017018170.2:c.1742-894T= XP_016873659.1:n.1742-894T=
XM_017018171.1:c.2267-894T= XP_016873660.1:n.2267-894T=
XM_017018172.2:c.-282-894T= XP_016873661.1:n.-282-894T=
NM_003105.6:c.2267-894T= MANE Select NP_003096.2:n.2267-894T=