Canonical Allele Identifier: CA383035576

Gene: SORL1

Linked Data

• MyVariant Identifiers: chr11:g.121429305T>G (hg19) ; chr11:g.121558596T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121558596T>G , CM000673.2:g.121558596T>G	GRCh38
NC_000011.9:g.121429305T>G , CM000673.1:g.121429305T>G	GRCh37
NC_000011.8:g.120934515T>G	NCBI36
NG_023313.1:g.111345T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260197.12:c.2669T>G MANE Select	ENSP00000260197.6:p.Met890Arg
ENST00000260197.11:c.2669T>G	ENSP00000260197.6:p.Met890Arg
ENST00000524873.1:n.397T>G
ENST00000529445.1:n.375T>G
NM_003105.5:c.2669T>G	NP_003096.1:p.Met890Arg
XM_011542963.1:c.2669T>G	XP_011541265.1:p.Met890Arg
XM_011542964.1:c.2669T>G	XP_011541266.1:p.Met890Arg
XM_011542965.1:c.1130T>G	XP_011541267.1:p.Met377Arg
XM_011542966.1:c.29T>G	XP_011541268.1:p.Met10Arg
XM_011542963.3:c.2669T>G	XP_011541265.1:p.Met890Arg
XM_011542965.3:c.1130T>G	XP_011541267.1:p.Met377Arg
XM_017018169.2:c.2357T>G	XP_016873658.1:p.Met786Arg
XM_017018170.2:c.2144T>G	XP_016873659.1:p.Met715Arg
XM_017018171.1:c.2669T>G	XP_016873660.1:p.Met890Arg
XM_017018172.2:c.29T>G	XP_016873661.1:p.Met10Arg
NM_003105.6:c.2669T>G MANE Select	NP_003096.2:p.Met890Arg