Canonical Allele Identifier: CA229983838
Gene: SORL1 HGNC NCBI

Linked Data

dbSNP Id: rs4598682

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.121505242A>G , CM000673.2:g.121505242A>G GRCh38
NC_000011.9:g.121375951A>G , CM000673.1:g.121375951A>G GRCh37
NC_000011.8:g.120881161A>G NCBI36
NG_023313.1:g.57991A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000260197.12:c.940-7761A>G MANE Select ENSP00000260197.6:n.940-7761A>G
ENST00000260197.11:c.940-7761A>G ENSP00000260197.6:n.940-7761A>G
ENST00000532451.1:n.892-7761A>G
NM_003105.5:c.940-7761A>G NP_003096.1:n.940-7761A>G
XM_011542963.1:c.940-7761A>G XP_011541265.1:n.940-7761A>G
XM_011542964.1:c.940-7761A>G XP_011541266.1:n.940-7761A>G
XM_011542963.3:c.940-7761A>G XP_011541265.1:n.940-7761A>G
XM_011542965.3:c.-683-7761A>G XP_011541267.1:n.-683-7761A>G
XM_017018169.2:c.628-7761A>G XP_016873658.1:n.628-7761A>G
XM_017018170.2:c.415-7761A>G XP_016873659.1:n.415-7761A>G
XM_017018171.1:c.940-7761A>G XP_016873660.1:n.940-7761A>G
NM_003105.6:c.940-7761A>G MANE Select NP_003096.2:n.940-7761A>G