Canonical Allele Identifier: CA383033913

Gene: SORL1

Linked Data

• dbSNP Id: rs1862542318
• gnomAD v3: 11-121554078-A-C
• gnomAD v4: 11-121554078-A-C
• MyVariant Identifiers: chr11:g.121424787A>C (hg19) ; chr11:g.121554078A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121554078A>C , CM000673.2:g.121554078A>C	GRCh38
NC_000011.9:g.121424787A>C , CM000673.1:g.121424787A>C	GRCh37
NC_000011.8:g.120929997A>C	NCBI36
NG_023313.1:g.106827A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000260197.12:c.2408A>C MANE Select	ENSP00000260197.6:p.Tyr803Ser
ENST00000260197.11:c.2408A>C	ENSP00000260197.6:p.Tyr803Ser
NM_003105.5:c.2408A>C	NP_003096.1:p.Tyr803Ser
XM_011542963.1:c.2408A>C	XP_011541265.1:p.Tyr803Ser
XM_011542964.1:c.2408A>C	XP_011541266.1:p.Tyr803Ser
XM_011542965.1:c.869A>C	XP_011541267.1:p.Tyr290Ser
XM_011542963.3:c.2408A>C	XP_011541265.1:p.Tyr803Ser
XM_011542965.3:c.869A>C	XP_011541267.1:p.Tyr290Ser
XM_017018169.2:c.2096A>C	XP_016873658.1:p.Tyr699Ser
XM_017018170.2:c.1883A>C	XP_016873659.1:p.Tyr628Ser
XM_017018171.1:c.2408A>C	XP_016873660.1:p.Tyr803Ser
XM_017018172.2:c.-141A>C	XP_016873661.1:n.-141A>C
NM_003105.6:c.2408A>C MANE Select	NP_003096.2:p.Tyr803Ser