Canonical Allele Identifier: CA383027384

Gene: SORL1

Linked Data

• MyVariant Identifiers: chr11:g.121456975C>A (hg19) ; chr11:g.121586266C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121586266C>A , CM000673.2:g.121586266C>A	GRCh38
NC_000011.9:g.121456975C>A , CM000673.1:g.121456975C>A	GRCh37
NC_000011.8:g.120962185C>A	NCBI36
NG_023313.1:g.139015C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000260197.12:c.3751C>A MANE Select	ENSP00000260197.6:p.Pro1251Thr
ENST00000260197.11:c.3751C>A	ENSP00000260197.6:p.Pro1251Thr
ENST00000525532.5:c.583C>A	ENSP00000434634.1:p.Pro195Thr
ENST00000532694.5:c.289C>A	ENSP00000432131.1:p.Pro97Thr
ENST00000534286.5:c.481C>A	ENSP00000436447.1:p.Pro161Thr
NM_003105.5:c.3751C>A	NP_003096.1:p.Pro1251Thr
XM_011542963.1:c.3637C>A	XP_011541265.1:p.Pro1213Thr
XM_011542964.1:c.3751C>A	XP_011541266.1:p.Pro1251Thr
XM_011542965.1:c.2212C>A	XP_011541267.1:p.Pro738Thr
XM_011542966.1:c.1111C>A	XP_011541268.1:p.Pro371Thr
XM_011542967.1:c.583C>A	XP_011541269.1:p.Pro195Thr
XM_011542963.3:c.3637C>A	XP_011541265.1:p.Pro1213Thr
XM_011542965.3:c.2212C>A	XP_011541267.1:p.Pro738Thr
XM_011542967.3:c.583C>A	XP_011541269.1:p.Pro195Thr
XM_017018169.2:c.3439C>A	XP_016873658.1:p.Pro1147Thr
XM_017018170.2:c.3226C>A	XP_016873659.1:p.Pro1076Thr
XM_017018171.1:c.3751C>A	XP_016873660.1:p.Pro1251Thr
XM_017018172.2:c.1111C>A	XP_016873661.1:p.Pro371Thr
NM_003105.6:c.3751C>A MANE Select	NP_003096.2:p.Pro1251Thr