Canonical Allele Identifier: CA2004946596
Gene: SORL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.121575259C= , CM000673.2:g.121575259C= GRCh38
NC_000011.9:g.121445968C= , CM000673.1:g.121445968C= GRCh37
NC_000011.8:g.120951178C= NCBI36
NG_023313.1:g.128008C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000260197.12:c.3460+896C= MANE Select ENSP00000260197.6:n.3460+896C=
ENST00000260197.11:c.3460+896C= ENSP00000260197.6:n.3460+896C=
ENST00000525532.5:c.292+896C= ENSP00000434634.1:n.292+896C=
NM_003105.5:c.3460+896C= NP_003096.1:n.3460+896C=
XM_011542963.1:c.3346+896C= XP_011541265.1:n.3346+896C=
XM_011542964.1:c.3460+896C= XP_011541266.1:n.3460+896C=
XM_011542965.1:c.1921+896C= XP_011541267.1:n.1921+896C=
XM_011542966.1:c.820+896C= XP_011541268.1:n.820+896C=
XM_011542967.1:c.292+896C= XP_011541269.1:n.292+896C=
XM_011542963.3:c.3346+896C= XP_011541265.1:n.3346+896C=
XM_011542965.3:c.1921+896C= XP_011541267.1:n.1921+896C=
XM_011542967.3:c.292+896C= XP_011541269.1:n.292+896C=
XM_017018169.2:c.3148+896C= XP_016873658.1:n.3148+896C=
XM_017018170.2:c.2935+896C= XP_016873659.1:n.2935+896C=
XM_017018171.1:c.3460+896C= XP_016873660.1:n.3460+896C=
XM_017018172.2:c.820+896C= XP_016873661.1:n.820+896C=
NM_003105.6:c.3460+896C= MANE Select NP_003096.2:n.3460+896C=