Canonical Allele Identifier: CA229968338

Gene: SORL1

Linked Data

• dbSNP Id: rs946760348
• MyVariant Identifiers: chr11:g.121357336C>T (hg19) ; chr11:g.121486627C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121486627C>T , CM000673.2:g.121486627C>T	GRCh38
NC_000011.9:g.121357336C>T , CM000673.1:g.121357336C>T	GRCh37
NC_000011.8:g.120862546C>T	NCBI36
NG_023313.1:g.39376C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260197.12:c.529-1405C>T MANE Select	ENSP00000260197.6:n.529-1405C>T
ENST00000260197.11:c.529-1405C>T	ENSP00000260197.6:n.529-1405C>T
ENST00000532451.1:n.481-1405C>T
NM_003105.5:c.529-1405C>T	NP_003096.1:n.529-1405C>T
XM_011542963.1:c.529-1405C>T	XP_011541265.1:n.529-1405C>T
XM_011542964.1:c.529-1405C>T	XP_011541266.1:n.529-1405C>T
XM_011542963.3:c.529-1405C>T	XP_011541265.1:n.529-1405C>T
XM_017018169.2:c.217-1405C>T	XP_016873658.1:n.217-1405C>T
XM_017018170.2:c.3+170C>T	XP_016873659.1:n.3+170C>T
XM_017018171.1:c.529-1405C>T	XP_016873660.1:n.529-1405C>T
NM_003105.6:c.529-1405C>T MANE Select	NP_003096.2:n.529-1405C>T