Canonical Allele Identifier: CA383024933

Gene: SORL1

Linked Data

• MyVariant Identifiers: chr11:g.121448084C>G (hg19) ; chr11:g.121577375C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121577375C>G , CM000673.2:g.121577375C>G	GRCh38
NC_000011.9:g.121448084C>G , CM000673.1:g.121448084C>G	GRCh37
NC_000011.8:g.120953294C>G	NCBI36
NG_023313.1:g.130124C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260197.12:c.3555C>G MANE Select	ENSP00000260197.6:p.Asp1185Glu
ENST00000260197.11:c.3555C>G	ENSP00000260197.6:p.Asp1185Glu
ENST00000525532.5:c.387C>G	ENSP00000434634.1:p.Asp129Glu
ENST00000532694.5:c.93C>G	ENSP00000432131.1:p.Asp31Glu
ENST00000534286.5:c.285C>G	ENSP00000436447.1:p.Asp95Glu
NM_003105.5:c.3555C>G	NP_003096.1:p.Asp1185Glu
XM_011542963.1:c.3441C>G	XP_011541265.1:p.Asp1147Glu
XM_011542964.1:c.3555C>G	XP_011541266.1:p.Asp1185Glu
XM_011542965.1:c.2016C>G	XP_011541267.1:p.Asp672Glu
XM_011542966.1:c.915C>G	XP_011541268.1:p.Asp305Glu
XM_011542967.1:c.387C>G	XP_011541269.1:p.Asp129Glu
XM_011542963.3:c.3441C>G	XP_011541265.1:p.Asp1147Glu
XM_011542965.3:c.2016C>G	XP_011541267.1:p.Asp672Glu
XM_011542967.3:c.387C>G	XP_011541269.1:p.Asp129Glu
XM_017018169.2:c.3243C>G	XP_016873658.1:p.Asp1081Glu
XM_017018170.2:c.3030C>G	XP_016873659.1:p.Asp1010Glu
XM_017018171.1:c.3555C>G	XP_016873660.1:p.Asp1185Glu
XM_017018172.2:c.915C>G	XP_016873661.1:p.Asp305Glu
NM_003105.6:c.3555C>G MANE Select	NP_003096.2:p.Asp1185Glu