Canonical Allele Identifier: CA383024947

Gene: SORL1

Linked Data

• dbSNP Id: rs1341358003
• gnomAD v2: 11-121448089-C-T
• gnomAD v4: 11-121577380-C-T
• MyVariant Identifiers: chr11:g.121448089C>T (hg19) ; chr11:g.121577380C>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260197.12:c.3560C>T MANE Select	ENSP00000260197.6:p.Ser1187Phe
ENST00000260197.11:c.3560C>T	ENSP00000260197.6:p.Ser1187Phe
ENST00000525532.5:c.392C>T	ENSP00000434634.1:p.Ser131Phe
ENST00000532694.5:c.98C>T	ENSP00000432131.1:p.Ser33Phe
ENST00000534286.5:c.290C>T	ENSP00000436447.1:p.Ser97Phe
NM_003105.5:c.3560C>T	NP_003096.1:p.Ser1187Phe
XM_011542963.1:c.3446C>T	XP_011541265.1:p.Ser1149Phe
XM_011542964.1:c.3560C>T	XP_011541266.1:p.Ser1187Phe
XM_011542965.1:c.2021C>T	XP_011541267.1:p.Ser674Phe
XM_011542966.1:c.920C>T	XP_011541268.1:p.Ser307Phe
XM_011542967.1:c.392C>T	XP_011541269.1:p.Ser131Phe
XM_011542963.3:c.3446C>T	XP_011541265.1:p.Ser1149Phe
XM_011542965.3:c.2021C>T	XP_011541267.1:p.Ser674Phe
XM_011542967.3:c.392C>T	XP_011541269.1:p.Ser131Phe
XM_017018169.2:c.3248C>T	XP_016873658.1:p.Ser1083Phe
XM_017018170.2:c.3035C>T	XP_016873659.1:p.Ser1012Phe
XM_017018171.1:c.3560C>T	XP_016873660.1:p.Ser1187Phe
XM_017018172.2:c.920C>T	XP_016873661.1:p.Ser307Phe
NM_003105.6:c.3560C>T MANE Select	NP_003096.2:p.Ser1187Phe