Canonical Allele Identifier: CA229979766

Gene: SORL1

Linked Data

• dbSNP Id: rs985654348
• gnomAD v3: 11-121500353-A-T
• gnomAD v4: 11-121500353-A-T
• MyVariant Identifiers: chr11:g.121371062A>T (hg19) ; chr11:g.121500353A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121500353A>T , CM000673.2:g.121500353A>T	GRCh38
NC_000011.9:g.121371062A>T , CM000673.1:g.121371062A>T	GRCh37
NC_000011.8:g.120876272A>T	NCBI36
NG_023313.1:g.53102A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000260197.12:c.939+3304A>T MANE Select	ENSP00000260197.6:n.939+3304A>T
ENST00000260197.11:c.939+3304A>T	ENSP00000260197.6:n.939+3304A>T
ENST00000532451.1:n.891+3304A>T
NM_003105.5:c.939+3304A>T	NP_003096.1:n.939+3304A>T
XM_011542963.1:c.939+3304A>T	XP_011541265.1:n.939+3304A>T
XM_011542964.1:c.939+3304A>T	XP_011541266.1:n.939+3304A>T
XM_011542963.3:c.939+3304A>T	XP_011541265.1:n.939+3304A>T
XM_011542965.3:c.-684+3304A>T	XP_011541267.1:n.-684+3304A>T
XM_017018169.2:c.627+3304A>T	XP_016873658.1:n.627+3304A>T
XM_017018170.2:c.414+3304A>T	XP_016873659.1:n.414+3304A>T
XM_017018171.1:c.939+3304A>T	XP_016873660.1:n.939+3304A>T
NM_003105.6:c.939+3304A>T MANE Select	NP_003096.2:n.939+3304A>T