Canonical Allele Identifier: CA383024931

Gene: SORL1

Linked Data

• MyVariant Identifiers: chr11:g.121448083A>T (hg19) ; chr11:g.121577374A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121577374A>T , CM000673.2:g.121577374A>T	GRCh38
NC_000011.9:g.121448083A>T , CM000673.1:g.121448083A>T	GRCh37
NC_000011.8:g.120953293A>T	NCBI36
NG_023313.1:g.130123A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260197.12:c.3554A>T MANE Select	ENSP00000260197.6:p.Asp1185Val
ENST00000260197.11:c.3554A>T	ENSP00000260197.6:p.Asp1185Val
ENST00000525532.5:c.386A>T	ENSP00000434634.1:p.Asp129Val
ENST00000532694.5:c.92A>T	ENSP00000432131.1:p.Asp31Val
ENST00000534286.5:c.284A>T	ENSP00000436447.1:p.Asp95Val
NM_003105.5:c.3554A>T	NP_003096.1:p.Asp1185Val
XM_011542963.1:c.3440A>T	XP_011541265.1:p.Asp1147Val
XM_011542964.1:c.3554A>T	XP_011541266.1:p.Asp1185Val
XM_011542965.1:c.2015A>T	XP_011541267.1:p.Asp672Val
XM_011542966.1:c.914A>T	XP_011541268.1:p.Asp305Val
XM_011542967.1:c.386A>T	XP_011541269.1:p.Asp129Val
XM_011542963.3:c.3440A>T	XP_011541265.1:p.Asp1147Val
XM_011542965.3:c.2015A>T	XP_011541267.1:p.Asp672Val
XM_011542967.3:c.386A>T	XP_011541269.1:p.Asp129Val
XM_017018169.2:c.3242A>T	XP_016873658.1:p.Asp1081Val
XM_017018170.2:c.3029A>T	XP_016873659.1:p.Asp1010Val
XM_017018171.1:c.3554A>T	XP_016873660.1:p.Asp1185Val
XM_017018172.2:c.914A>T	XP_016873661.1:p.Asp305Val
NM_003105.6:c.3554A>T MANE Select	NP_003096.2:p.Asp1185Val