Canonical Allele Identifier: CA229967973
Gene: SORL1 HGNC NCBI

Linked Data

dbSNP Id: rs975205238
MyVariant Identifiers: chr11:g.121356922G>C (hg19) chr11:g.121486213G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.121486213G>C , CM000673.2:g.121486213G>C GRCh38
NC_000011.9:g.121356922G>C , CM000673.1:g.121356922G>C GRCh37
NC_000011.8:g.120862132G>C NCBI36
NG_023313.1:g.38962G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000260197.12:c.529-1819G>C MANE Select ENSP00000260197.6:n.529-1819G>C
ENST00000260197.11:c.529-1819G>C ENSP00000260197.6:n.529-1819G>C
ENST00000532451.1:n.481-1819G>C
NM_003105.5:c.529-1819G>C NP_003096.1:n.529-1819G>C
XM_011542963.1:c.529-1819G>C XP_011541265.1:n.529-1819G>C
XM_011542964.1:c.529-1819G>C XP_011541266.1:n.529-1819G>C
XM_011542963.3:c.529-1819G>C XP_011541265.1:n.529-1819G>C
XM_017018169.2:c.217-1819G>C XP_016873658.1:n.217-1819G>C
XM_017018171.1:c.529-1819G>C XP_016873660.1:n.529-1819G>C
NM_003105.6:c.529-1819G>C MANE Select NP_003096.2:n.529-1819G>C
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