Canonical Allele Identifier: CA2004949832
Gene: SORL1 HGNC NCBI

Linked Data

dbSNP Id: rs1863032566

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.121582826C>A , CM000673.2:g.121582826C>A GRCh38
NC_000011.9:g.121453535C>A , CM000673.1:g.121453535C>A GRCh37
NC_000011.8:g.120958745C>A NCBI36
NG_023313.1:g.135575C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000260197.12:c.3581-632C>A MANE Select ENSP00000260197.6:n.3581-632C>A
ENST00000260197.11:c.3581-632C>A ENSP00000260197.6:n.3581-632C>A
ENST00000525532.5:c.413-632C>A ENSP00000434634.1:n.413-632C>A
ENST00000532694.5:c.119-632C>A ENSP00000432131.1:n.119-632C>A
ENST00000534286.5:c.311-632C>A ENSP00000436447.1:n.311-632C>A
NM_003105.5:c.3581-632C>A NP_003096.1:n.3581-632C>A
XM_011542963.1:c.3467-632C>A XP_011541265.1:n.3467-632C>A
XM_011542964.1:c.3581-632C>A XP_011541266.1:n.3581-632C>A
XM_011542965.1:c.2042-632C>A XP_011541267.1:n.2042-632C>A
XM_011542966.1:c.941-632C>A XP_011541268.1:n.941-632C>A
XM_011542967.1:c.413-632C>A XP_011541269.1:n.413-632C>A
XM_011542963.3:c.3467-632C>A XP_011541265.1:n.3467-632C>A
XM_011542965.3:c.2042-632C>A XP_011541267.1:n.2042-632C>A
XM_011542967.3:c.413-632C>A XP_011541269.1:n.413-632C>A
XM_017018169.2:c.3269-632C>A XP_016873658.1:n.3269-632C>A
XM_017018170.2:c.3056-632C>A XP_016873659.1:n.3056-632C>A
XM_017018171.1:c.3581-632C>A XP_016873660.1:n.3581-632C>A
XM_017018172.2:c.941-632C>A XP_016873661.1:n.941-632C>A
NM_003105.6:c.3581-632C>A MANE Select NP_003096.2:n.3581-632C>A