Canonical Allele Identifier: CA383024925

Gene: SORL1

Linked Data

• dbSNP Id: rs1337683268
• gnomAD v2: 11-121448081-G-T
• gnomAD v4: 11-121577372-G-T
• MyVariant Identifiers: chr11:g.121448081G>T (hg19) ; chr11:g.121577372G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121577372G>T , CM000673.2:g.121577372G>T	GRCh38
NC_000011.9:g.121448081G>T , CM000673.1:g.121448081G>T	GRCh37
NC_000011.8:g.120953291G>T	NCBI36
NG_023313.1:g.130121G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260197.12:c.3552G>T MANE Select	ENSP00000260197.6:p.Arg1184Ser
ENST00000260197.11:c.3552G>T	ENSP00000260197.6:p.Arg1184Ser
ENST00000525532.5:c.384G>T	ENSP00000434634.1:p.Arg128Ser
ENST00000532694.5:c.90G>T	ENSP00000432131.1:p.Arg30Ser
ENST00000534286.5:c.282G>T	ENSP00000436447.1:p.Arg94Ser
NM_003105.5:c.3552G>T	NP_003096.1:p.Arg1184Ser
XM_011542963.1:c.3438G>T	XP_011541265.1:p.Arg1146Ser
XM_011542964.1:c.3552G>T	XP_011541266.1:p.Arg1184Ser
XM_011542965.1:c.2013G>T	XP_011541267.1:p.Arg671Ser
XM_011542966.1:c.912G>T	XP_011541268.1:p.Arg304Ser
XM_011542967.1:c.384G>T	XP_011541269.1:p.Arg128Ser
XM_011542963.3:c.3438G>T	XP_011541265.1:p.Arg1146Ser
XM_011542965.3:c.2013G>T	XP_011541267.1:p.Arg671Ser
XM_011542967.3:c.384G>T	XP_011541269.1:p.Arg128Ser
XM_017018169.2:c.3240G>T	XP_016873658.1:p.Arg1080Ser
XM_017018170.2:c.3027G>T	XP_016873659.1:p.Arg1009Ser
XM_017018171.1:c.3552G>T	XP_016873660.1:p.Arg1184Ser
XM_017018172.2:c.912G>T	XP_016873661.1:p.Arg304Ser
NM_003105.6:c.3552G>T MANE Select	NP_003096.2:p.Arg1184Ser