Canonical Allele Identifier: CA2004929147
Gene: SORL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.121618552G= , CM000673.2:g.121618552G= GRCh38
NC_000011.9:g.121489261G= , CM000673.1:g.121489261G= GRCh37
NC_000011.8:g.120994471G= NCBI36
NG_023313.1:g.171301G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000260197.12:c.5605-222G= MANE Select ENSP00000260197.6:n.5605-222G=
ENST00000260197.11:c.5605-222G= ENSP00000260197.6:n.5605-222G=
ENST00000524633.1:n.771-222G=
ENST00000525532.5:c.2437-222G= ENSP00000434634.1:n.2437-222G=
ENST00000527934.1:c.1450-222G= ENSP00000435405.1:n.1450-222G=
ENST00000528339.5:n.3242-222G=
ENST00000532694.5:c.2143-222G= ENSP00000432131.1:n.2143-222G=
ENST00000534286.5:c.2335-222G= ENSP00000436447.1:n.2335-222G=
ENST00000534754.5:n.1767-222G=
NM_003105.5:c.5605-222G= NP_003096.1:n.5605-222G=
XM_011542963.1:c.5491-222G= XP_011541265.1:n.5491-222G=
XM_011542965.1:c.4066-222G= XP_011541267.1:n.4066-222G=
XM_011542966.1:c.2965-222G= XP_011541268.1:n.2965-222G=
XM_011542967.1:c.2437-222G= XP_011541269.1:n.2437-222G=
XM_011542963.3:c.5491-222G= XP_011541265.1:n.5491-222G=
XM_011542965.3:c.4066-222G= XP_011541267.1:n.4066-222G=
XM_011542967.3:c.2437-222G= XP_011541269.1:n.2437-222G=
XM_017018169.2:c.5293-222G= XP_016873658.1:n.5293-222G=
XM_017018170.2:c.5080-222G= XP_016873659.1:n.5080-222G=
XM_017018172.2:c.2965-222G= XP_016873661.1:n.2965-222G=
NM_003105.6:c.5605-222G= MANE Select NP_003096.2:n.5605-222G=