Canonical Allele Identifier: CA383027364

Gene: SORL1

Linked Data

• MyVariant Identifiers: chr11:g.121456973T>A (hg19) ; chr11:g.121586264T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121586264T>A , CM000673.2:g.121586264T>A	GRCh38
NC_000011.9:g.121456973T>A , CM000673.1:g.121456973T>A	GRCh37
NC_000011.8:g.120962183T>A	NCBI36
NG_023313.1:g.139013T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000260197.12:c.3749T>A MANE Select	ENSP00000260197.6:p.Ile1250Asn
ENST00000260197.11:c.3749T>A	ENSP00000260197.6:p.Ile1250Asn
ENST00000525532.5:c.581T>A	ENSP00000434634.1:p.Ile194Asn
ENST00000532694.5:c.287T>A	ENSP00000432131.1:p.Ile96Asn
ENST00000534286.5:c.479T>A	ENSP00000436447.1:p.Ile160Asn
NM_003105.5:c.3749T>A	NP_003096.1:p.Ile1250Asn
XM_011542963.1:c.3635T>A	XP_011541265.1:p.Ile1212Asn
XM_011542964.1:c.3749T>A	XP_011541266.1:p.Ile1250Asn
XM_011542965.1:c.2210T>A	XP_011541267.1:p.Ile737Asn
XM_011542966.1:c.1109T>A	XP_011541268.1:p.Ile370Asn
XM_011542967.1:c.581T>A	XP_011541269.1:p.Ile194Asn
XM_011542963.3:c.3635T>A	XP_011541265.1:p.Ile1212Asn
XM_011542965.3:c.2210T>A	XP_011541267.1:p.Ile737Asn
XM_011542967.3:c.581T>A	XP_011541269.1:p.Ile194Asn
XM_017018169.2:c.3437T>A	XP_016873658.1:p.Ile1146Asn
XM_017018170.2:c.3224T>A	XP_016873659.1:p.Ile1075Asn
XM_017018171.1:c.3749T>A	XP_016873660.1:p.Ile1250Asn
XM_017018172.2:c.1109T>A	XP_016873661.1:p.Ile370Asn
NM_003105.6:c.3749T>A MANE Select	NP_003096.2:p.Ile1250Asn