Canonical Allele Identifier: CA6329733

Gene: SORL1

Linked Data

• dbSNP Id: rs762548519
• ExAC: 11:121475933 A / G
• gnomAD v2: 11-121475933-A-G
• gnomAD v4: 11-121605224-A-G
• MyVariant Identifiers: chr11:g.121475933A>G (hg19) ; chr11:g.121605224A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121605224A>G , CM000673.2:g.121605224A>G	GRCh38
NC_000011.9:g.121475933A>G , CM000673.1:g.121475933A>G	GRCh37
NC_000011.8:g.120981143A>G	NCBI36
NG_023313.1:g.157973A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000260197.12:c.4763A>G MANE Select	ENSP00000260197.6:p.Tyr1588Cys
ENST00000260197.11:c.4763A>G	ENSP00000260197.6:p.Tyr1588Cys
ENST00000525532.5:c.1595A>G	ENSP00000434634.1:p.Tyr532Cys
ENST00000527934.1:c.608A>G	ENSP00000435405.1:p.Tyr203Cys
ENST00000532694.5:c.1301A>G	ENSP00000432131.1:p.Tyr434Cys
ENST00000534286.5:c.1493A>G	ENSP00000436447.1:p.Tyr498Cys
NM_003105.5:c.4763A>G	NP_003096.1:p.Tyr1588Cys
XM_011542963.1:c.4649A>G	XP_011541265.1:p.Tyr1550Cys
XM_011542964.1:c.4763A>G	XP_011541266.1:p.Tyr1588Cys
XM_011542965.1:c.3224A>G	XP_011541267.1:p.Tyr1075Cys
XM_011542966.1:c.2123A>G	XP_011541268.1:p.Tyr708Cys
XM_011542967.1:c.1595A>G	XP_011541269.1:p.Tyr532Cys
XM_011542963.3:c.4649A>G	XP_011541265.1:p.Tyr1550Cys
XM_011542965.3:c.3224A>G	XP_011541267.1:p.Tyr1075Cys
XM_011542967.3:c.1595A>G	XP_011541269.1:p.Tyr532Cys
XM_017018169.2:c.4451A>G	XP_016873658.1:p.Tyr1484Cys
XM_017018170.2:c.4238A>G	XP_016873659.1:p.Tyr1413Cys
XM_017018171.1:c.4763A>G	XP_016873660.1:p.Tyr1588Cys
XM_017018172.2:c.2123A>G	XP_016873661.1:p.Tyr708Cys
NM_003105.6:c.4763A>G MANE Select	NP_003096.2:p.Tyr1588Cys