Canonical Allele Identifier: CA229916256

Gene: SORL1

Linked Data

• dbSNP Id: rs3781834
• gnomAD v2: 11-121445940-A-G
• gnomAD v3: 11-121575231-A-G
• gnomAD v4: 11-121575231-A-G
• MyVariant Identifiers: chr11:g.121445940A>G (hg19) ; chr11:g.121575231A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121575231A>G , CM000673.2:g.121575231A>G	GRCh38
NC_000011.9:g.121445940A>G , CM000673.1:g.121445940A>G	GRCh37
NC_000011.8:g.120951150A>G	NCBI36
NG_023313.1:g.127980A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000260197.12:c.3460+868A>G MANE Select	ENSP00000260197.6:n.3460+868A>G
ENST00000260197.11:c.3460+868A>G	ENSP00000260197.6:n.3460+868A>G
ENST00000525532.5:c.292+868A>G	ENSP00000434634.1:n.292+868A>G
NM_003105.5:c.3460+868A>G	NP_003096.1:n.3460+868A>G
XM_011542963.1:c.3346+868A>G	XP_011541265.1:n.3346+868A>G
XM_011542964.1:c.3460+868A>G	XP_011541266.1:n.3460+868A>G
XM_011542965.1:c.1921+868A>G	XP_011541267.1:n.1921+868A>G
XM_011542966.1:c.820+868A>G	XP_011541268.1:n.820+868A>G
XM_011542967.1:c.292+868A>G	XP_011541269.1:n.292+868A>G
XM_011542963.3:c.3346+868A>G	XP_011541265.1:n.3346+868A>G
XM_011542965.3:c.1921+868A>G	XP_011541267.1:n.1921+868A>G
XM_011542967.3:c.292+868A>G	XP_011541269.1:n.292+868A>G
XM_017018169.2:c.3148+868A>G	XP_016873658.1:n.3148+868A>G
XM_017018170.2:c.2935+868A>G	XP_016873659.1:n.2935+868A>G
XM_017018171.1:c.3460+868A>G	XP_016873660.1:n.3460+868A>G
XM_017018172.2:c.820+868A>G	XP_016873661.1:n.820+868A>G
NM_003105.6:c.3460+868A>G MANE Select	NP_003096.2:n.3460+868A>G