Canonical Allele Identifier: CA6328927

Gene: SORL1

Linked Data

• dbSNP Id: rs766534267
• ExAC: 11:121424791 G / C
• gnomAD v2: 11-121424791-G-C
• gnomAD v4: 11-121554082-G-C
• MyVariant Identifiers: chr11:g.121424791G>C (hg19) ; chr11:g.121554082G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121554082G>C , CM000673.2:g.121554082G>C	GRCh38
NC_000011.9:g.121424791G>C , CM000673.1:g.121424791G>C	GRCh37
NC_000011.8:g.120930001G>C	NCBI36
NG_023313.1:g.106831G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000260197.12:c.2412G>C MANE Select	ENSP00000260197.6:p.Trp804Cys
ENST00000260197.11:c.2412G>C	ENSP00000260197.6:p.Trp804Cys
NM_003105.5:c.2412G>C	NP_003096.1:p.Trp804Cys
XM_011542963.1:c.2412G>C	XP_011541265.1:p.Trp804Cys
XM_011542964.1:c.2412G>C	XP_011541266.1:p.Trp804Cys
XM_011542965.1:c.873G>C	XP_011541267.1:p.Trp291Cys
XM_011542963.3:c.2412G>C	XP_011541265.1:p.Trp804Cys
XM_011542965.3:c.873G>C	XP_011541267.1:p.Trp291Cys
XM_017018169.2:c.2100G>C	XP_016873658.1:p.Trp700Cys
XM_017018170.2:c.1887G>C	XP_016873659.1:p.Trp629Cys
XM_017018171.1:c.2412G>C	XP_016873660.1:p.Trp804Cys
XM_017018172.2:c.-137G>C	XP_016873661.1:n.-137G>C
NM_003105.6:c.2412G>C MANE Select	NP_003096.2:p.Trp804Cys