Canonical Allele Identifier: CA6329387
Gene: SORL1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1209963
dbSNP Id: rs1699102

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000260197.12:c.3738C>T MANE Select ENSP00000260197.6:p.Asn1246=
ENST00000260197.11:c.3738C>T ENSP00000260197.6:p.Asn1246=
ENST00000525532.5:c.570C>T ENSP00000434634.1:p.Asn190=
ENST00000532694.5:c.276C>T ENSP00000432131.1:p.Asn92=
ENST00000534286.5:c.468C>T ENSP00000436447.1:p.Asn156=
NM_003105.5:c.3738C>T NP_003096.1:p.Asn1246=
XM_011542963.1:c.3624C>T XP_011541265.1:p.Asn1208=
XM_011542964.1:c.3738C>T XP_011541266.1:p.Asn1246=
XM_011542965.1:c.2199C>T XP_011541267.1:p.Asn733=
XM_011542966.1:c.1098C>T XP_011541268.1:p.Asn366=
XM_011542967.1:c.570C>T XP_011541269.1:p.Asn190=
XM_011542963.3:c.3624C>T XP_011541265.1:p.Asn1208=
XM_011542965.3:c.2199C>T XP_011541267.1:p.Asn733=
XM_011542967.3:c.570C>T XP_011541269.1:p.Asn190=
XM_017018169.2:c.3426C>T XP_016873658.1:p.Asn1142=
XM_017018170.2:c.3213C>T XP_016873659.1:p.Asn1071=
XM_017018171.1:c.3738C>T XP_016873660.1:p.Asn1246=
XM_017018172.2:c.1098C>T XP_016873661.1:p.Asn366=
NM_003105.6:c.3738C>T MANE Select NP_003096.2:p.Asn1246=