Canonical Allele Identifier: CA602226175

Gene: SORL1

Linked Data

• dbSNP Id: rs1448993429
• gnomAD v2: 11-121393141-G-T
• gnomAD v3: 11-121522432-G-T
• gnomAD v4: 11-121522432-G-T
• MyVariant Identifiers: chr11:g.121393141G>T (hg19) ; chr11:g.121522432G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121522432G>T , CM000673.2:g.121522432G>T	GRCh38
NC_000011.9:g.121393141G>T , CM000673.1:g.121393141G>T	GRCh37
NC_000011.8:g.120898351G>T	NCBI36
NG_023313.1:g.75181G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000260197.12:c.1405-154G>T MANE Select	ENSP00000260197.6:n.1405-154G>T
ENST00000260197.11:c.1405-154G>T	ENSP00000260197.6:n.1405-154G>T
ENST00000532451.1:n.1357-154G>T
NM_003105.5:c.1405-154G>T	NP_003096.1:n.1405-154G>T
XM_011542963.1:c.1405-154G>T	XP_011541265.1:n.1405-154G>T
XM_011542964.1:c.1405-154G>T	XP_011541266.1:n.1405-154G>T
XM_011542965.1:c.-218-154G>T	XP_011541267.1:n.-218-154G>T
XM_011542963.3:c.1405-154G>T	XP_011541265.1:n.1405-154G>T
XM_011542965.3:c.-218-154G>T	XP_011541267.1:n.-218-154G>T
XM_017018169.2:c.1093-154G>T	XP_016873658.1:n.1093-154G>T
XM_017018170.2:c.880-154G>T	XP_016873659.1:n.880-154G>T
XM_017018171.1:c.1405-154G>T	XP_016873660.1:n.1405-154G>T
NM_003105.6:c.1405-154G>T MANE Select	NP_003096.2:n.1405-154G>T