Canonical Allele Identifier: CA2004929183
Gene: SORL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.121618627T= , CM000673.2:g.121618627T= GRCh38
NC_000011.9:g.121489336T= , CM000673.1:g.121489336T= GRCh37
NC_000011.8:g.120994546T= NCBI36
NG_023313.1:g.171376T=

Transcript Alleles

HGVS Amino-acid change
ENST00000260197.12:c.5605-147T= MANE Select ENSP00000260197.6:n.5605-147T=
ENST00000260197.11:c.5605-147T= ENSP00000260197.6:n.5605-147T=
ENST00000524633.1:n.771-147T=
ENST00000525532.5:c.2437-147T= ENSP00000434634.1:n.2437-147T=
ENST00000527934.1:c.1450-147T= ENSP00000435405.1:n.1450-147T=
ENST00000528339.5:n.3242-147T=
ENST00000532694.5:c.2143-147T= ENSP00000432131.1:n.2143-147T=
ENST00000534286.5:c.2335-147T= ENSP00000436447.1:n.2335-147T=
ENST00000534754.5:n.1767-147T=
NM_003105.5:c.5605-147T= NP_003096.1:n.5605-147T=
XM_011542963.1:c.5491-147T= XP_011541265.1:n.5491-147T=
XM_011542965.1:c.4066-147T= XP_011541267.1:n.4066-147T=
XM_011542966.1:c.2965-147T= XP_011541268.1:n.2965-147T=
XM_011542967.1:c.2437-147T= XP_011541269.1:n.2437-147T=
XM_011542963.3:c.5491-147T= XP_011541265.1:n.5491-147T=
XM_011542965.3:c.4066-147T= XP_011541267.1:n.4066-147T=
XM_011542967.3:c.2437-147T= XP_011541269.1:n.2437-147T=
XM_017018169.2:c.5293-147T= XP_016873658.1:n.5293-147T=
XM_017018170.2:c.5080-147T= XP_016873659.1:n.5080-147T=
XM_017018172.2:c.2965-147T= XP_016873661.1:n.2965-147T=
NM_003105.6:c.5605-147T= MANE Select NP_003096.2:n.5605-147T=