Canonical Allele Identifier: CA229972628

Gene: SORL1

Linked Data

• dbSNP Id: rs916359574
• gnomAD v3: 11-121491541-A-C
• gnomAD v4: 11-121491541-A-C
• MyVariant Identifiers: chr11:g.121362250A>C (hg19) ; chr11:g.121491541A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121491541A>C , CM000673.2:g.121491541A>C	GRCh38
NC_000011.9:g.121362250A>C , CM000673.1:g.121362250A>C	GRCh37
NC_000011.8:g.120867460A>C	NCBI36
NG_023313.1:g.44290A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000260197.12:c.758+1431A>C MANE Select	ENSP00000260197.6:n.758+1431A>C
ENST00000260197.11:c.758+1431A>C	ENSP00000260197.6:n.758+1431A>C
ENST00000532451.1:n.710+1431A>C
NM_003105.5:c.758+1431A>C	NP_003096.1:n.758+1431A>C
XM_011542963.1:c.758+1431A>C	XP_011541265.1:n.758+1431A>C
XM_011542964.1:c.758+1431A>C	XP_011541266.1:n.758+1431A>C
XM_011542963.3:c.758+1431A>C	XP_011541265.1:n.758+1431A>C
XM_017018169.2:c.446+1431A>C	XP_016873658.1:n.446+1431A>C
XM_017018170.2:c.233+1431A>C	XP_016873659.1:n.233+1431A>C
XM_017018171.1:c.758+1431A>C	XP_016873660.1:n.758+1431A>C
NM_003105.6:c.758+1431A>C MANE Select	NP_003096.2:n.758+1431A>C