Canonical Allele Identifier: CA2004946601
Gene: SORL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.121575277G= , CM000673.2:g.121575277G= GRCh38
NC_000011.9:g.121445986G= , CM000673.1:g.121445986G= GRCh37
NC_000011.8:g.120951196G= NCBI36
NG_023313.1:g.128026G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000260197.12:c.3460+914G= MANE Select ENSP00000260197.6:n.3460+914G=
ENST00000260197.11:c.3460+914G= ENSP00000260197.6:n.3460+914G=
ENST00000525532.5:c.292+914G= ENSP00000434634.1:n.292+914G=
NM_003105.5:c.3460+914G= NP_003096.1:n.3460+914G=
XM_011542963.1:c.3346+914G= XP_011541265.1:n.3346+914G=
XM_011542964.1:c.3460+914G= XP_011541266.1:n.3460+914G=
XM_011542965.1:c.1921+914G= XP_011541267.1:n.1921+914G=
XM_011542966.1:c.820+914G= XP_011541268.1:n.820+914G=
XM_011542967.1:c.292+914G= XP_011541269.1:n.292+914G=
XM_011542963.3:c.3346+914G= XP_011541265.1:n.3346+914G=
XM_011542965.3:c.1921+914G= XP_011541267.1:n.1921+914G=
XM_011542967.3:c.292+914G= XP_011541269.1:n.292+914G=
XM_017018169.2:c.3148+914G= XP_016873658.1:n.3148+914G=
XM_017018170.2:c.2935+914G= XP_016873659.1:n.2935+914G=
XM_017018171.1:c.3460+914G= XP_016873660.1:n.3460+914G=
XM_017018172.2:c.820+914G= XP_016873661.1:n.820+914G=
NM_003105.6:c.3460+914G= MANE Select NP_003096.2:n.3460+914G=