Canonical Allele Identifier: CA6328622
Gene: SORL1 HGNC NCBI

Linked Data

dbSNP Id: rs756987309

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.121522590C>T , CM000673.2:g.121522590C>T GRCh38
NC_000011.9:g.121393299C>T , CM000673.1:g.121393299C>T GRCh37
NC_000011.8:g.120898509C>T NCBI36
NG_023313.1:g.75339C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000260197.12:c.1409C>T MANE Select ENSP00000260197.6:p.Ser470Phe
ENST00000260197.11:c.1409C>T ENSP00000260197.6:p.Ser470Phe
ENST00000532451.1:n.1361C>T
NM_003105.5:c.1409C>T NP_003096.1:p.Ser470Phe
XM_011542963.1:c.1409C>T XP_011541265.1:p.Ser470Phe
XM_011542964.1:c.1409C>T XP_011541266.1:p.Ser470Phe
XM_011542965.1:c.-214C>T XP_011541267.1:n.-214C>T
XM_011542963.3:c.1409C>T XP_011541265.1:p.Ser470Phe
XM_011542965.3:c.-214C>T XP_011541267.1:n.-214C>T
XM_017018169.2:c.1097C>T XP_016873658.1:p.Ser366Phe
XM_017018170.2:c.884C>T XP_016873659.1:p.Ser295Phe
XM_017018171.1:c.1409C>T XP_016873660.1:p.Ser470Phe
NM_003105.6:c.1409C>T MANE Select NP_003096.2:p.Ser470Phe