Canonical Allele Identifier: CA383038409

Gene: SORL1

Linked Data

• ClinVar Variation Id: 3167613
• ClinVar RCV Id: RCV004457457
• dbSNP Id: rs1409617040
• gnomAD v2: 11-121475839-A-G
• gnomAD v3: 11-121605130-A-G
• gnomAD v4: 11-121605130-A-G
• MyVariant Identifiers: chr11:g.121475839A>G (hg19) ; chr11:g.121605130A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121605130A>G , CM000673.2:g.121605130A>G	GRCh38
NC_000011.9:g.121475839A>G , CM000673.1:g.121475839A>G	GRCh37
NC_000011.8:g.120981049A>G	NCBI36
NG_023313.1:g.157879A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260197.12:c.4669A>G MANE Select	ENSP00000260197.6:p.Lys1557Glu
ENST00000260197.11:c.4669A>G	ENSP00000260197.6:p.Lys1557Glu
ENST00000525532.5:c.1501A>G	ENSP00000434634.1:p.Lys501Glu
ENST00000527934.1:c.514A>G	ENSP00000435405.1:p.Lys172Glu
ENST00000532694.5:c.1207A>G	ENSP00000432131.1:p.Lys403Glu
ENST00000534286.5:c.1399A>G	ENSP00000436447.1:p.Lys467Glu
NM_003105.5:c.4669A>G	NP_003096.1:p.Lys1557Glu
XM_011542963.1:c.4555A>G	XP_011541265.1:p.Lys1519Glu
XM_011542964.1:c.4669A>G	XP_011541266.1:p.Lys1557Glu
XM_011542965.1:c.3130A>G	XP_011541267.1:p.Lys1044Glu
XM_011542966.1:c.2029A>G	XP_011541268.1:p.Lys677Glu
XM_011542967.1:c.1501A>G	XP_011541269.1:p.Lys501Glu
XM_011542963.3:c.4555A>G	XP_011541265.1:p.Lys1519Glu
XM_011542965.3:c.3130A>G	XP_011541267.1:p.Lys1044Glu
XM_011542967.3:c.1501A>G	XP_011541269.1:p.Lys501Glu
XM_017018169.2:c.4357A>G	XP_016873658.1:p.Lys1453Glu
XM_017018170.2:c.4144A>G	XP_016873659.1:p.Lys1382Glu
XM_017018171.1:c.4669A>G	XP_016873660.1:p.Lys1557Glu
XM_017018172.2:c.2029A>G	XP_016873661.1:p.Lys677Glu
NM_003105.6:c.4669A>G MANE Select	NP_003096.2:p.Lys1557Glu