Canonical Allele Identifier: CA2004922107
Gene: SORL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.121605123T= , CM000673.2:g.121605123T= GRCh38
NC_000011.9:g.121475832T= , CM000673.1:g.121475832T= GRCh37
NC_000011.8:g.120981042T= NCBI36
NG_023313.1:g.157872T=

Transcript Alleles

HGVS Amino-acid change
ENST00000260197.12:c.4662T= MANE Select ENSP00000260197.6:p.Thr1554=
ENST00000260197.11:c.4662T= ENSP00000260197.6:p.Thr1554=
ENST00000525532.5:c.1494T= ENSP00000434634.1:p.Thr498=
ENST00000527934.1:c.507T= ENSP00000435405.1:p.Thr169=
ENST00000532694.5:c.1200T= ENSP00000432131.1:p.Thr400=
ENST00000534286.5:c.1392T= ENSP00000436447.1:p.Thr464=
NM_003105.5:c.4662T= NP_003096.1:p.Thr1554=
XM_011542963.1:c.4548T= XP_011541265.1:p.Thr1516=
XM_011542964.1:c.4662T= XP_011541266.1:p.Thr1554=
XM_011542965.1:c.3123T= XP_011541267.1:p.Thr1041=
XM_011542966.1:c.2022T= XP_011541268.1:p.Thr674=
XM_011542967.1:c.1494T= XP_011541269.1:p.Thr498=
XM_011542963.3:c.4548T= XP_011541265.1:p.Thr1516=
XM_011542965.3:c.3123T= XP_011541267.1:p.Thr1041=
XM_011542967.3:c.1494T= XP_011541269.1:p.Thr498=
XM_017018169.2:c.4350T= XP_016873658.1:p.Thr1450=
XM_017018170.2:c.4137T= XP_016873659.1:p.Thr1379=
XM_017018171.1:c.4662T= XP_016873660.1:p.Thr1554=
XM_017018172.2:c.2022T= XP_016873661.1:p.Thr674=
NM_003105.6:c.4662T= MANE Select NP_003096.2:p.Thr1554=