Canonical Allele Identifier: CA229857870

Gene: SORL1

Linked Data

• dbSNP Id: rs973712179
• gnomAD v3: 11-121582850-T-G
• gnomAD v4: 11-121582850-T-G
• MyVariant Identifiers: chr11:g.121453559T>G (hg19) ; chr11:g.121582850T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121582850T>G , CM000673.2:g.121582850T>G	GRCh38
NC_000011.9:g.121453559T>G , CM000673.1:g.121453559T>G	GRCh37
NC_000011.8:g.120958769T>G	NCBI36
NG_023313.1:g.135599T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000260197.12:c.3581-608T>G MANE Select	ENSP00000260197.6:n.3581-608T>G
ENST00000260197.11:c.3581-608T>G	ENSP00000260197.6:n.3581-608T>G
ENST00000525532.5:c.413-608T>G	ENSP00000434634.1:n.413-608T>G
ENST00000532694.5:c.119-608T>G	ENSP00000432131.1:n.119-608T>G
ENST00000534286.5:c.311-608T>G	ENSP00000436447.1:n.311-608T>G
NM_003105.5:c.3581-608T>G	NP_003096.1:n.3581-608T>G
XM_011542963.1:c.3467-608T>G	XP_011541265.1:n.3467-608T>G
XM_011542964.1:c.3581-608T>G	XP_011541266.1:n.3581-608T>G
XM_011542965.1:c.2042-608T>G	XP_011541267.1:n.2042-608T>G
XM_011542966.1:c.941-608T>G	XP_011541268.1:n.941-608T>G
XM_011542967.1:c.413-608T>G	XP_011541269.1:n.413-608T>G
XM_011542963.3:c.3467-608T>G	XP_011541265.1:n.3467-608T>G
XM_011542965.3:c.2042-608T>G	XP_011541267.1:n.2042-608T>G
XM_011542967.3:c.413-608T>G	XP_011541269.1:n.413-608T>G
XM_017018169.2:c.3269-608T>G	XP_016873658.1:n.3269-608T>G
XM_017018170.2:c.3056-608T>G	XP_016873659.1:n.3056-608T>G
XM_017018171.1:c.3581-608T>G	XP_016873660.1:n.3581-608T>G
XM_017018172.2:c.941-608T>G	XP_016873661.1:n.941-608T>G
NM_003105.6:c.3581-608T>G MANE Select	NP_003096.2:n.3581-608T>G