Canonical Allele Identifier: CA229873646

Gene: SORL1

Linked Data

• dbSNP Id: rs1022853265
• gnomAD v4: 11-121605214-T-G
• MyVariant Identifiers: chr11:g.121475923T>G (hg19) ; chr11:g.121605214T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121605214T>G , CM000673.2:g.121605214T>G	GRCh38
NC_000011.9:g.121475923T>G , CM000673.1:g.121475923T>G	GRCh37
NC_000011.8:g.120981133T>G	NCBI36
NG_023313.1:g.157963T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000260197.12:c.4753T>G MANE Select	ENSP00000260197.6:p.Ser1585Ala
ENST00000260197.11:c.4753T>G	ENSP00000260197.6:p.Ser1585Ala
ENST00000525532.5:c.1585T>G	ENSP00000434634.1:p.Ser529Ala
ENST00000527934.1:c.598T>G	ENSP00000435405.1:p.Ser200Ala
ENST00000532694.5:c.1291T>G	ENSP00000432131.1:p.Ser431Ala
ENST00000534286.5:c.1483T>G	ENSP00000436447.1:p.Ser495Ala
NM_003105.5:c.4753T>G	NP_003096.1:p.Ser1585Ala
XM_011542963.1:c.4639T>G	XP_011541265.1:p.Ser1547Ala
XM_011542964.1:c.4753T>G	XP_011541266.1:p.Ser1585Ala
XM_011542965.1:c.3214T>G	XP_011541267.1:p.Ser1072Ala
XM_011542966.1:c.2113T>G	XP_011541268.1:p.Ser705Ala
XM_011542967.1:c.1585T>G	XP_011541269.1:p.Ser529Ala
XM_011542963.3:c.4639T>G	XP_011541265.1:p.Ser1547Ala
XM_011542965.3:c.3214T>G	XP_011541267.1:p.Ser1072Ala
XM_011542967.3:c.1585T>G	XP_011541269.1:p.Ser529Ala
XM_017018169.2:c.4441T>G	XP_016873658.1:p.Ser1481Ala
XM_017018170.2:c.4228T>G	XP_016873659.1:p.Ser1410Ala
XM_017018171.1:c.4753T>G	XP_016873660.1:p.Ser1585Ala
XM_017018172.2:c.2113T>G	XP_016873661.1:p.Ser705Ala
NM_003105.6:c.4753T>G MANE Select	NP_003096.2:p.Ser1585Ala