Canonical Allele Identifier: CA383027389

Gene: SORL1

Linked Data

• MyVariant Identifiers: chr11:g.121456976C>G (hg19) ; chr11:g.121586267C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121586267C>G , CM000673.2:g.121586267C>G	GRCh38
NC_000011.9:g.121456976C>G , CM000673.1:g.121456976C>G	GRCh37
NC_000011.8:g.120962186C>G	NCBI36
NG_023313.1:g.139016C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000260197.12:c.3752C>G MANE Select	ENSP00000260197.6:p.Pro1251Arg
ENST00000260197.11:c.3752C>G	ENSP00000260197.6:p.Pro1251Arg
ENST00000525532.5:c.584C>G	ENSP00000434634.1:p.Pro195Arg
ENST00000532694.5:c.290C>G	ENSP00000432131.1:p.Pro97Arg
ENST00000534286.5:c.482C>G	ENSP00000436447.1:p.Pro161Arg
NM_003105.5:c.3752C>G	NP_003096.1:p.Pro1251Arg
XM_011542963.1:c.3638C>G	XP_011541265.1:p.Pro1213Arg
XM_011542964.1:c.3752C>G	XP_011541266.1:p.Pro1251Arg
XM_011542965.1:c.2213C>G	XP_011541267.1:p.Pro738Arg
XM_011542966.1:c.1112C>G	XP_011541268.1:p.Pro371Arg
XM_011542967.1:c.584C>G	XP_011541269.1:p.Pro195Arg
XM_011542963.3:c.3638C>G	XP_011541265.1:p.Pro1213Arg
XM_011542965.3:c.2213C>G	XP_011541267.1:p.Pro738Arg
XM_011542967.3:c.584C>G	XP_011541269.1:p.Pro195Arg
XM_017018169.2:c.3440C>G	XP_016873658.1:p.Pro1147Arg
XM_017018170.2:c.3227C>G	XP_016873659.1:p.Pro1076Arg
XM_017018171.1:c.3752C>G	XP_016873660.1:p.Pro1251Arg
XM_017018172.2:c.1112C>G	XP_016873661.1:p.Pro371Arg
NM_003105.6:c.3752C>G MANE Select	NP_003096.2:p.Pro1251Arg