Canonical Allele Identifier: CA2004939031

Gene: SORL1

Linked Data

• dbSNP Id: rs1591361285
• gnomAD v4: 11-121631053-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121631053C>T , CM000673.2:g.121631053C>T	GRCh38
NC_000011.9:g.121501762C>T , CM000673.1:g.121501762C>T	GRCh37
NC_000011.8:g.121006972C>T	NCBI36
NG_023313.1:g.183802C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000260197.12:c.*1490C>T MANE Select	ENSP00000260197.6:n.*1490C>T
ENST00000260197.11:c.*1490C>T	ENSP00000260197.6:n.*1490C>T
ENST00000530365.1:n.759-963C>T
NM_003105.5:c.*1490C>T	NP_003096.1:n.*1490C>T
XM_011542963.1:c.*1490C>T	XP_011541265.1:n.*1490C>T
XM_011542965.1:c.*1490C>T	XP_011541267.1:n.*1490C>T
XM_011542966.1:c.*1490C>T	XP_011541268.1:n.*1490C>T
XM_011542967.1:c.*1490C>T	XP_011541269.1:n.*1490C>T
XM_011542965.3:c.*1490C>T	XP_011541267.1:n.*1490C>T
XM_011542967.3:c.*1490C>T	XP_011541269.1:n.*1490C>T
XM_017018172.2:c.*1490C>T	XP_016873661.1:n.*1490C>T
NM_003105.6:c.*1490C>T MANE Select	NP_003096.2:n.*1490C>T