Canonical Allele Identifier: CA383027335

Gene: SORL1

Linked Data

• MyVariant Identifiers: chr11:g.121456969T>A (hg19) ; chr11:g.121586260T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121586260T>A , CM000673.2:g.121586260T>A	GRCh38
NC_000011.9:g.121456969T>A , CM000673.1:g.121456969T>A	GRCh37
NC_000011.8:g.120962179T>A	NCBI36
NG_023313.1:g.139009T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000260197.12:c.3745T>A MANE Select	ENSP00000260197.6:p.Cys1249Ser
ENST00000260197.11:c.3745T>A	ENSP00000260197.6:p.Cys1249Ser
ENST00000525532.5:c.577T>A	ENSP00000434634.1:p.Cys193Ser
ENST00000532694.5:c.283T>A	ENSP00000432131.1:p.Cys95Ser
ENST00000534286.5:c.475T>A	ENSP00000436447.1:p.Cys159Ser
NM_003105.5:c.3745T>A	NP_003096.1:p.Cys1249Ser
XM_011542963.1:c.3631T>A	XP_011541265.1:p.Cys1211Ser
XM_011542964.1:c.3745T>A	XP_011541266.1:p.Cys1249Ser
XM_011542965.1:c.2206T>A	XP_011541267.1:p.Cys736Ser
XM_011542966.1:c.1105T>A	XP_011541268.1:p.Cys369Ser
XM_011542967.1:c.577T>A	XP_011541269.1:p.Cys193Ser
XM_011542963.3:c.3631T>A	XP_011541265.1:p.Cys1211Ser
XM_011542965.3:c.2206T>A	XP_011541267.1:p.Cys736Ser
XM_011542967.3:c.577T>A	XP_011541269.1:p.Cys193Ser
XM_017018169.2:c.3433T>A	XP_016873658.1:p.Cys1145Ser
XM_017018170.2:c.3220T>A	XP_016873659.1:p.Cys1074Ser
XM_017018171.1:c.3745T>A	XP_016873660.1:p.Cys1249Ser
XM_017018172.2:c.1105T>A	XP_016873661.1:p.Cys369Ser
NM_003105.6:c.3745T>A MANE Select	NP_003096.2:p.Cys1249Ser