Canonical Allele Identifier: CA383038393
Gene: SORL1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.121605122C>A , CM000673.2:g.121605122C>A GRCh38
NC_000011.9:g.121475831C>A , CM000673.1:g.121475831C>A GRCh37
NC_000011.8:g.120981041C>A NCBI36
NG_023313.1:g.157871C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000260197.12:c.4661C>A MANE Select ENSP00000260197.6:p.Thr1554Asn
ENST00000260197.11:c.4661C>A ENSP00000260197.6:p.Thr1554Asn
ENST00000525532.5:c.1493C>A ENSP00000434634.1:p.Thr498Asn
ENST00000527934.1:c.506C>A ENSP00000435405.1:p.Thr169Asn
ENST00000532694.5:c.1199C>A ENSP00000432131.1:p.Thr400Asn
ENST00000534286.5:c.1391C>A ENSP00000436447.1:p.Thr464Asn
NM_003105.5:c.4661C>A NP_003096.1:p.Thr1554Asn
XM_011542963.1:c.4547C>A XP_011541265.1:p.Thr1516Asn
XM_011542964.1:c.4661C>A XP_011541266.1:p.Thr1554Asn
XM_011542965.1:c.3122C>A XP_011541267.1:p.Thr1041Asn
XM_011542966.1:c.2021C>A XP_011541268.1:p.Thr674Asn
XM_011542967.1:c.1493C>A XP_011541269.1:p.Thr498Asn
XM_011542963.3:c.4547C>A XP_011541265.1:p.Thr1516Asn
XM_011542965.3:c.3122C>A XP_011541267.1:p.Thr1041Asn
XM_011542967.3:c.1493C>A XP_011541269.1:p.Thr498Asn
XM_017018169.2:c.4349C>A XP_016873658.1:p.Thr1450Asn
XM_017018170.2:c.4136C>A XP_016873659.1:p.Thr1379Asn
XM_017018171.1:c.4661C>A XP_016873660.1:p.Thr1554Asn
XM_017018172.2:c.2021C>A XP_016873661.1:p.Thr674Asn
NM_003105.6:c.4661C>A MANE Select NP_003096.2:p.Thr1554Asn