Canonical Allele Identifier: CA2004922200
Gene: SORL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.121605214T= , CM000673.2:g.121605214T= GRCh38
NC_000011.9:g.121475923T= , CM000673.1:g.121475923T= GRCh37
NC_000011.8:g.120981133T= NCBI36
NG_023313.1:g.157963T=

Transcript Alleles

HGVS Amino-acid change
ENST00000260197.12:c.4753T= MANE Select ENSP00000260197.6:p.Ser1585=
ENST00000260197.11:c.4753T= ENSP00000260197.6:p.Ser1585=
ENST00000525532.5:c.1585T= ENSP00000434634.1:p.Ser529=
ENST00000527934.1:c.598T= ENSP00000435405.1:p.Ser200=
ENST00000532694.5:c.1291T= ENSP00000432131.1:p.Ser431=
ENST00000534286.5:c.1483T= ENSP00000436447.1:p.Ser495=
NM_003105.5:c.4753T= NP_003096.1:p.Ser1585=
XM_011542963.1:c.4639T= XP_011541265.1:p.Ser1547=
XM_011542964.1:c.4753T= XP_011541266.1:p.Ser1585=
XM_011542965.1:c.3214T= XP_011541267.1:p.Ser1072=
XM_011542966.1:c.2113T= XP_011541268.1:p.Ser705=
XM_011542967.1:c.1585T= XP_011541269.1:p.Ser529=
XM_011542963.3:c.4639T= XP_011541265.1:p.Ser1547=
XM_011542965.3:c.3214T= XP_011541267.1:p.Ser1072=
XM_011542967.3:c.1585T= XP_011541269.1:p.Ser529=
XM_017018169.2:c.4441T= XP_016873658.1:p.Ser1481=
XM_017018170.2:c.4228T= XP_016873659.1:p.Ser1410=
XM_017018171.1:c.4753T= XP_016873660.1:p.Ser1585=
XM_017018172.2:c.2113T= XP_016873661.1:p.Ser705=
NM_003105.6:c.4753T= MANE Select NP_003096.2:p.Ser1585=