Canonical Allele Identifier: CA602231614

Gene: SORL1

Linked Data

• dbSNP Id: rs1343938254
• gnomAD v2: 11-121434493-A-T
• MyVariant Identifiers: chr11:g.121434493A>T (hg19) ; chr11:g.121563784A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121563784A>T , CM000673.2:g.121563784A>T	GRCh38
NC_000011.9:g.121434493A>T , CM000673.1:g.121434493A>T	GRCh37
NC_000011.8:g.120939703A>T	NCBI36
NG_023313.1:g.116533A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000260197.12:c.3050-3156A>T MANE Select	ENSP00000260197.6:n.3050-3156A>T
ENST00000260197.11:c.3050-3156A>T	ENSP00000260197.6:n.3050-3156A>T
NM_003105.5:c.3050-3156A>T	NP_003096.1:n.3050-3156A>T
XM_011542963.1:c.3050-3156A>T	XP_011541265.1:n.3050-3156A>T
XM_011542964.1:c.3050-3156A>T	XP_011541266.1:n.3050-3156A>T
XM_011542965.1:c.1511-3156A>T	XP_011541267.1:n.1511-3156A>T
XM_011542966.1:c.410-3156A>T	XP_011541268.1:n.410-3156A>T
XM_011542963.3:c.3050-3156A>T	XP_011541265.1:n.3050-3156A>T
XM_011542965.3:c.1511-3156A>T	XP_011541267.1:n.1511-3156A>T
XM_017018169.2:c.2738-3156A>T	XP_016873658.1:n.2738-3156A>T
XM_017018170.2:c.2525-3156A>T	XP_016873659.1:n.2525-3156A>T
XM_017018171.1:c.3050-3156A>T	XP_016873660.1:n.3050-3156A>T
XM_017018172.2:c.410-3156A>T	XP_016873661.1:n.410-3156A>T
NM_003105.6:c.3050-3156A>T MANE Select	NP_003096.2:n.3050-3156A>T