Canonical Allele Identifier: CA2004894280
Gene: SORL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.121500383T= , CM000673.2:g.121500383T= GRCh38
NC_000011.9:g.121371092T= , CM000673.1:g.121371092T= GRCh37
NC_000011.8:g.120876302T= NCBI36
NG_023313.1:g.53132T=

Transcript Alleles

HGVS Amino-acid change
ENST00000260197.12:c.939+3334T= MANE Select ENSP00000260197.6:n.939+3334T=
ENST00000260197.11:c.939+3334T= ENSP00000260197.6:n.939+3334T=
ENST00000532451.1:n.891+3334T=
NM_003105.5:c.939+3334T= NP_003096.1:n.939+3334T=
XM_011542963.1:c.939+3334T= XP_011541265.1:n.939+3334T=
XM_011542964.1:c.939+3334T= XP_011541266.1:n.939+3334T=
XM_011542963.3:c.939+3334T= XP_011541265.1:n.939+3334T=
XM_011542965.3:c.-684+3334T= XP_011541267.1:n.-684+3334T=
XM_017018169.2:c.627+3334T= XP_016873658.1:n.627+3334T=
XM_017018170.2:c.414+3334T= XP_016873659.1:n.414+3334T=
XM_017018171.1:c.939+3334T= XP_016873660.1:n.939+3334T=
NM_003105.6:c.939+3334T= MANE Select NP_003096.2:n.939+3334T=