Canonical Allele Identifier: CA2004949175
Community Standard Title: NM_003105.6(SORL1):c.3581-2241T=
Gene: SORL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.121581217T= , CM000673.2:g.121581217T= GRCh38
NC_000011.9:g.121451926T= , CM000673.1:g.121451926T= GRCh37
NC_000011.8:g.120957136T= NCBI36
NG_023313.1:g.133966T=

Transcript Alleles

HGVS Amino-acid Change
NM_003105.6:c.3581-2241T= MANE Select NP_003096.2:n.3581-2241T=
ENST00000260197.12:c.3581-2241T= MANE Select ENSP00000260197.6:n.3581-2241T=
NM_003105.5:c.3581-2241T= NP_003096.1:n.3581-2241T=
ENST00000260197.11:c.3581-2241T= ENSP00000260197.6:n.3581-2241T=
ENST00000525532.5:c.413-2241T= ENSP00000434634.1:n.413-2241T=
ENST00000532694.5:c.119-2241T= ENSP00000432131.1:n.119-2241T=
ENST00000534286.5:c.311-2241T= ENSP00000436447.1:n.311-2241T=
XM_011542963.1:c.3467-2241T= XP_011541265.1:n.3467-2241T=
XM_011542963.3:c.3467-2241T= XP_011541265.1:n.3467-2241T=
XM_011542964.1:c.3581-2241T= XP_011541266.1:n.3581-2241T=
XM_011542965.1:c.2042-2241T= XP_011541267.1:n.2042-2241T=
XM_011542965.3:c.2042-2241T= XP_011541267.1:n.2042-2241T=
XM_011542966.1:c.941-2241T= XP_011541268.1:n.941-2241T=
XM_011542967.1:c.413-2241T= XP_011541269.1:n.413-2241T=
XM_011542967.3:c.413-2241T= XP_011541269.1:n.413-2241T=
XM_017018169.2:c.3269-2241T= XP_016873658.1:n.3269-2241T=
XM_017018170.2:c.3056-2241T= XP_016873659.1:n.3056-2241T=
XM_017018171.1:c.3581-2241T= XP_016873660.1:n.3581-2241T=
XM_017018172.2:c.941-2241T= XP_016873661.1:n.941-2241T=