Canonical Allele Identifier: CA383024945

Gene: SORL1

Linked Data

• gnomAD v4: 11-121577380-C-A
• MyVariant Identifiers: chr11:g.121448089C>A (hg19) ; chr11:g.121577380C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121577380C>A , CM000673.2:g.121577380C>A	GRCh38
NC_000011.9:g.121448089C>A , CM000673.1:g.121448089C>A	GRCh37
NC_000011.8:g.120953299C>A	NCBI36
NG_023313.1:g.130129C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000260197.12:c.3560C>A MANE Select	ENSP00000260197.6:p.Ser1187Tyr
ENST00000260197.11:c.3560C>A	ENSP00000260197.6:p.Ser1187Tyr
ENST00000525532.5:c.392C>A	ENSP00000434634.1:p.Ser131Tyr
ENST00000532694.5:c.98C>A	ENSP00000432131.1:p.Ser33Tyr
ENST00000534286.5:c.290C>A	ENSP00000436447.1:p.Ser97Tyr
NM_003105.5:c.3560C>A	NP_003096.1:p.Ser1187Tyr
XM_011542963.1:c.3446C>A	XP_011541265.1:p.Ser1149Tyr
XM_011542964.1:c.3560C>A	XP_011541266.1:p.Ser1187Tyr
XM_011542965.1:c.2021C>A	XP_011541267.1:p.Ser674Tyr
XM_011542966.1:c.920C>A	XP_011541268.1:p.Ser307Tyr
XM_011542967.1:c.392C>A	XP_011541269.1:p.Ser131Tyr
XM_011542963.3:c.3446C>A	XP_011541265.1:p.Ser1149Tyr
XM_011542965.3:c.2021C>A	XP_011541267.1:p.Ser674Tyr
XM_011542967.3:c.392C>A	XP_011541269.1:p.Ser131Tyr
XM_017018169.2:c.3248C>A	XP_016873658.1:p.Ser1083Tyr
XM_017018170.2:c.3035C>A	XP_016873659.1:p.Ser1012Tyr
XM_017018171.1:c.3560C>A	XP_016873660.1:p.Ser1187Tyr
XM_017018172.2:c.920C>A	XP_016873661.1:p.Ser307Tyr
NM_003105.6:c.3560C>A MANE Select	NP_003096.2:p.Ser1187Tyr