Canonical Allele Identifier: CA383038868

Gene: SORL1

Linked Data

• gnomAD v4: 11-121605218-G-A
• MyVariant Identifiers: chr11:g.121475927G>A (hg19) ; chr11:g.121605218G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121605218G>A , CM000673.2:g.121605218G>A	GRCh38
NC_000011.9:g.121475927G>A , CM000673.1:g.121475927G>A	GRCh37
NC_000011.8:g.120981137G>A	NCBI36
NG_023313.1:g.157967G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000260197.12:c.4757G>A MANE Select	ENSP00000260197.6:p.Cys1586Tyr
ENST00000260197.11:c.4757G>A	ENSP00000260197.6:p.Cys1586Tyr
ENST00000525532.5:c.1589G>A	ENSP00000434634.1:p.Cys530Tyr
ENST00000527934.1:c.602G>A	ENSP00000435405.1:p.Cys201Tyr
ENST00000532694.5:c.1295G>A	ENSP00000432131.1:p.Cys432Tyr
ENST00000534286.5:c.1487G>A	ENSP00000436447.1:p.Cys496Tyr
NM_003105.5:c.4757G>A	NP_003096.1:p.Cys1586Tyr
XM_011542963.1:c.4643G>A	XP_011541265.1:p.Cys1548Tyr
XM_011542964.1:c.4757G>A	XP_011541266.1:p.Cys1586Tyr
XM_011542965.1:c.3218G>A	XP_011541267.1:p.Cys1073Tyr
XM_011542966.1:c.2117G>A	XP_011541268.1:p.Cys706Tyr
XM_011542967.1:c.1589G>A	XP_011541269.1:p.Cys530Tyr
XM_011542963.3:c.4643G>A	XP_011541265.1:p.Cys1548Tyr
XM_011542965.3:c.3218G>A	XP_011541267.1:p.Cys1073Tyr
XM_011542967.3:c.1589G>A	XP_011541269.1:p.Cys530Tyr
XM_017018169.2:c.4445G>A	XP_016873658.1:p.Cys1482Tyr
XM_017018170.2:c.4232G>A	XP_016873659.1:p.Cys1411Tyr
XM_017018171.1:c.4757G>A	XP_016873660.1:p.Cys1586Tyr
XM_017018172.2:c.2117G>A	XP_016873661.1:p.Cys706Tyr
NM_003105.6:c.4757G>A MANE Select	NP_003096.2:p.Cys1586Tyr