Canonical Allele Identifier: CA229853571

Gene: SORL1

Linked Data

• dbSNP Id: rs914619424
• gnomAD v2: 11-121448310-C-T
• gnomAD v3: 11-121577601-C-T
• gnomAD v4: 11-121577601-C-T
• MyVariant Identifiers: chr11:g.121448310C>T (hg19) ; chr11:g.121577601C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121577601C>T , CM000673.2:g.121577601C>T	GRCh38
NC_000011.9:g.121448310C>T , CM000673.1:g.121448310C>T	GRCh37
NC_000011.8:g.120953520C>T	NCBI36
NG_023313.1:g.130350C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260197.12:c.3580+201C>T MANE Select	ENSP00000260197.6:n.3580+201C>T
ENST00000260197.11:c.3580+201C>T	ENSP00000260197.6:n.3580+201C>T
ENST00000525532.5:c.412+201C>T	ENSP00000434634.1:n.412+201C>T
ENST00000532694.5:c.118+201C>T	ENSP00000432131.1:n.118+201C>T
ENST00000534286.5:c.310+201C>T	ENSP00000436447.1:n.310+201C>T
NM_003105.5:c.3580+201C>T	NP_003096.1:n.3580+201C>T
XM_011542963.1:c.3466+201C>T	XP_011541265.1:n.3466+201C>T
XM_011542964.1:c.3580+201C>T	XP_011541266.1:n.3580+201C>T
XM_011542965.1:c.2041+201C>T	XP_011541267.1:n.2041+201C>T
XM_011542966.1:c.940+201C>T	XP_011541268.1:n.940+201C>T
XM_011542967.1:c.412+201C>T	XP_011541269.1:n.412+201C>T
XM_011542963.3:c.3466+201C>T	XP_011541265.1:n.3466+201C>T
XM_011542965.3:c.2041+201C>T	XP_011541267.1:n.2041+201C>T
XM_011542967.3:c.412+201C>T	XP_011541269.1:n.412+201C>T
XM_017018169.2:c.3268+201C>T	XP_016873658.1:n.3268+201C>T
XM_017018170.2:c.3055+201C>T	XP_016873659.1:n.3055+201C>T
XM_017018171.1:c.3580+201C>T	XP_016873660.1:n.3580+201C>T
XM_017018172.2:c.940+201C>T	XP_016873661.1:n.940+201C>T
NM_003105.6:c.3580+201C>T MANE Select	NP_003096.2:n.3580+201C>T