Canonical Allele Identifier: CA383033725

Gene: SORL1

Linked Data

• gnomAD v4: 11-121553987-G-T
• COSMIC: COSM924049
• MyVariant Identifiers: chr11:g.121424696G>T (hg19) ; chr11:g.121553987G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121553987G>T , CM000673.2:g.121553987G>T	GRCh38
NC_000011.9:g.121424696G>T , CM000673.1:g.121424696G>T	GRCh37
NC_000011.8:g.120929906G>T	NCBI36
NG_023313.1:g.106736G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260197.12:c.2317G>T MANE Select	ENSP00000260197.6:p.Asp773Tyr
ENST00000260197.11:c.2317G>T	ENSP00000260197.6:p.Asp773Tyr
NM_003105.5:c.2317G>T	NP_003096.1:p.Asp773Tyr
XM_011542963.1:c.2317G>T	XP_011541265.1:p.Asp773Tyr
XM_011542964.1:c.2317G>T	XP_011541266.1:p.Asp773Tyr
XM_011542965.1:c.778G>T	XP_011541267.1:p.Asp260Tyr
XM_011542963.3:c.2317G>T	XP_011541265.1:p.Asp773Tyr
XM_011542965.3:c.778G>T	XP_011541267.1:p.Asp260Tyr
XM_017018169.2:c.2005G>T	XP_016873658.1:p.Asp669Tyr
XM_017018170.2:c.1792G>T	XP_016873659.1:p.Asp598Tyr
XM_017018171.1:c.2317G>T	XP_016873660.1:p.Asp773Tyr
XM_017018172.2:c.-232G>T	XP_016873661.1:n.-232G>T
NM_003105.6:c.2317G>T MANE Select	NP_003096.2:p.Asp773Tyr