Canonical Allele Identifier: CA383038844

Gene: SORL1

Linked Data

• MyVariant Identifiers: chr11:g.121475923T>A (hg19) ; chr11:g.121605214T>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000260197.12:c.4753T>A MANE Select	ENSP00000260197.6:p.Ser1585Thr
ENST00000260197.11:c.4753T>A	ENSP00000260197.6:p.Ser1585Thr
ENST00000525532.5:c.1585T>A	ENSP00000434634.1:p.Ser529Thr
ENST00000527934.1:c.598T>A	ENSP00000435405.1:p.Ser200Thr
ENST00000532694.5:c.1291T>A	ENSP00000432131.1:p.Ser431Thr
ENST00000534286.5:c.1483T>A	ENSP00000436447.1:p.Ser495Thr
NM_003105.5:c.4753T>A	NP_003096.1:p.Ser1585Thr
XM_011542963.1:c.4639T>A	XP_011541265.1:p.Ser1547Thr
XM_011542964.1:c.4753T>A	XP_011541266.1:p.Ser1585Thr
XM_011542965.1:c.3214T>A	XP_011541267.1:p.Ser1072Thr
XM_011542966.1:c.2113T>A	XP_011541268.1:p.Ser705Thr
XM_011542967.1:c.1585T>A	XP_011541269.1:p.Ser529Thr
XM_011542963.3:c.4639T>A	XP_011541265.1:p.Ser1547Thr
XM_011542965.3:c.3214T>A	XP_011541267.1:p.Ser1072Thr
XM_011542967.3:c.1585T>A	XP_011541269.1:p.Ser529Thr
XM_017018169.2:c.4441T>A	XP_016873658.1:p.Ser1481Thr
XM_017018170.2:c.4228T>A	XP_016873659.1:p.Ser1410Thr
XM_017018171.1:c.4753T>A	XP_016873660.1:p.Ser1585Thr
XM_017018172.2:c.2113T>A	XP_016873661.1:p.Ser705Thr
NM_003105.6:c.4753T>A MANE Select	NP_003096.2:p.Ser1585Thr