Canonical Allele Identifier: CA383038862

Gene: SORL1

Linked Data

• MyVariant Identifiers: chr11:g.121475926T>G (hg19) ; chr11:g.121605217T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121605217T>G , CM000673.2:g.121605217T>G	GRCh38
NC_000011.9:g.121475926T>G , CM000673.1:g.121475926T>G	GRCh37
NC_000011.8:g.120981136T>G	NCBI36
NG_023313.1:g.157966T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000260197.12:c.4756T>G MANE Select	ENSP00000260197.6:p.Cys1586Gly
ENST00000260197.11:c.4756T>G	ENSP00000260197.6:p.Cys1586Gly
ENST00000525532.5:c.1588T>G	ENSP00000434634.1:p.Cys530Gly
ENST00000527934.1:c.601T>G	ENSP00000435405.1:p.Cys201Gly
ENST00000532694.5:c.1294T>G	ENSP00000432131.1:p.Cys432Gly
ENST00000534286.5:c.1486T>G	ENSP00000436447.1:p.Cys496Gly
NM_003105.5:c.4756T>G	NP_003096.1:p.Cys1586Gly
XM_011542963.1:c.4642T>G	XP_011541265.1:p.Cys1548Gly
XM_011542964.1:c.4756T>G	XP_011541266.1:p.Cys1586Gly
XM_011542965.1:c.3217T>G	XP_011541267.1:p.Cys1073Gly
XM_011542966.1:c.2116T>G	XP_011541268.1:p.Cys706Gly
XM_011542967.1:c.1588T>G	XP_011541269.1:p.Cys530Gly
XM_011542963.3:c.4642T>G	XP_011541265.1:p.Cys1548Gly
XM_011542965.3:c.3217T>G	XP_011541267.1:p.Cys1073Gly
XM_011542967.3:c.1588T>G	XP_011541269.1:p.Cys530Gly
XM_017018169.2:c.4444T>G	XP_016873658.1:p.Cys1482Gly
XM_017018170.2:c.4231T>G	XP_016873659.1:p.Cys1411Gly
XM_017018171.1:c.4756T>G	XP_016873660.1:p.Cys1586Gly
XM_017018172.2:c.2116T>G	XP_016873661.1:p.Cys706Gly
NM_003105.6:c.4756T>G MANE Select	NP_003096.2:p.Cys1586Gly