Canonical Allele Identifier: CA383025401

Gene: SORL1

Linked Data

• MyVariant Identifiers: chr11:g.121393688G>T (hg19) ; chr11:g.121522979G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121522979G>T , CM000673.2:g.121522979G>T	GRCh38
NC_000011.9:g.121393688G>T , CM000673.1:g.121393688G>T	GRCh37
NC_000011.8:g.120898898G>T	NCBI36
NG_023313.1:g.75728G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260197.12:c.1586G>T MANE Select	ENSP00000260197.6:p.Arg529Met
ENST00000260197.11:c.1586G>T	ENSP00000260197.6:p.Arg529Met
ENST00000532451.1:n.1538G>T
NM_003105.5:c.1586G>T	NP_003096.1:p.Arg529Met
XM_011542963.1:c.1586G>T	XP_011541265.1:p.Arg529Met
XM_011542964.1:c.1586G>T	XP_011541266.1:p.Arg529Met
XM_011542965.1:c.-37G>T	XP_011541267.1:n.-37G>T
XM_011542963.3:c.1586G>T	XP_011541265.1:p.Arg529Met
XM_011542965.3:c.-37G>T	XP_011541267.1:n.-37G>T
XM_017018169.2:c.1274G>T	XP_016873658.1:p.Arg425Met
XM_017018170.2:c.1061G>T	XP_016873659.1:p.Arg354Met
XM_017018171.1:c.1586G>T	XP_016873660.1:p.Arg529Met
NM_003105.6:c.1586G>T MANE Select	NP_003096.2:p.Arg529Met