Canonical Allele Identifier: CA383027301
Gene: SORL1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.121456962C>A (hg19) chr11:g.121586253C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.121586253C>A , CM000673.2:g.121586253C>A GRCh38
NC_000011.9:g.121456962C>A , CM000673.1:g.121456962C>A GRCh37
NC_000011.8:g.120962172C>A NCBI36
NG_023313.1:g.139002C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000260197.12:c.3738C>A MANE Select ENSP00000260197.6:p.Asn1246Lys
ENST00000260197.11:c.3738C>A ENSP00000260197.6:p.Asn1246Lys
ENST00000525532.5:c.570C>A ENSP00000434634.1:p.Asn190Lys
ENST00000532694.5:c.276C>A ENSP00000432131.1:p.Asn92Lys
ENST00000534286.5:c.468C>A ENSP00000436447.1:p.Asn156Lys
NM_003105.5:c.3738C>A NP_003096.1:p.Asn1246Lys
XM_011542963.1:c.3624C>A XP_011541265.1:p.Asn1208Lys
XM_011542964.1:c.3738C>A XP_011541266.1:p.Asn1246Lys
XM_011542965.1:c.2199C>A XP_011541267.1:p.Asn733Lys
XM_011542966.1:c.1098C>A XP_011541268.1:p.Asn366Lys
XM_011542967.1:c.570C>A XP_011541269.1:p.Asn190Lys
XM_011542963.3:c.3624C>A XP_011541265.1:p.Asn1208Lys
XM_011542965.3:c.2199C>A XP_011541267.1:p.Asn733Lys
XM_011542967.3:c.570C>A XP_011541269.1:p.Asn190Lys
XM_017018169.2:c.3426C>A XP_016873658.1:p.Asn1142Lys
XM_017018170.2:c.3213C>A XP_016873659.1:p.Asn1071Lys
XM_017018171.1:c.3738C>A XP_016873660.1:p.Asn1246Lys
XM_017018172.2:c.1098C>A XP_016873661.1:p.Asn366Lys
NM_003105.6:c.3738C>A MANE Select NP_003096.2:p.Asn1246Lys
Search 100 bp 5'
Search 100 bp 3'