Canonical Allele Identifier: CA383035948

Gene: SORL1

Linked Data

• gnomAD v4: 11-121558720-G-T
• MyVariant Identifiers: chr11:g.121429429G>T (hg19) ; chr11:g.121558720G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121558720G>T , CM000673.2:g.121558720G>T	GRCh38
NC_000011.9:g.121429429G>T , CM000673.1:g.121429429G>T	GRCh37
NC_000011.8:g.120934639G>T	NCBI36
NG_023313.1:g.111469G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260197.12:c.2793G>T MANE Select	ENSP00000260197.6:p.Gln931His
ENST00000260197.11:c.2793G>T	ENSP00000260197.6:p.Gln931His
ENST00000524873.1:n.521G>T
ENST00000529445.1:n.499G>T
NM_003105.5:c.2793G>T	NP_003096.1:p.Gln931His
XM_011542963.1:c.2793G>T	XP_011541265.1:p.Gln931His
XM_011542964.1:c.2793G>T	XP_011541266.1:p.Gln931His
XM_011542965.1:c.1254G>T	XP_011541267.1:p.Gln418His
XM_011542966.1:c.153G>T	XP_011541268.1:p.Gln51His
XM_011542963.3:c.2793G>T	XP_011541265.1:p.Gln931His
XM_011542965.3:c.1254G>T	XP_011541267.1:p.Gln418His
XM_017018169.2:c.2481G>T	XP_016873658.1:p.Gln827His
XM_017018170.2:c.2268G>T	XP_016873659.1:p.Gln756His
XM_017018171.1:c.2793G>T	XP_016873660.1:p.Gln931His
XM_017018172.2:c.153G>T	XP_016873661.1:p.Gln51His
NM_003105.6:c.2793G>T MANE Select	NP_003096.2:p.Gln931His