Canonical Allele Identifier: CA229897193

Gene: SORL1

Linked Data

• dbSNP Id: rs530988399
• gnomAD v2: 11-121423414-T-C
• gnomAD v3: 11-121552705-T-C
• gnomAD v4: 11-121552705-T-C
• MyVariant Identifiers: chr11:g.121423414T>C (hg19) ; chr11:g.121552705T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121552705T>C , CM000673.2:g.121552705T>C	GRCh38
NC_000011.9:g.121423414T>C , CM000673.1:g.121423414T>C	GRCh37
NC_000011.8:g.120928624T>C	NCBI36
NG_023313.1:g.105454T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260197.12:c.2267-1232T>C MANE Select	ENSP00000260197.6:n.2267-1232T>C
ENST00000260197.11:c.2267-1232T>C	ENSP00000260197.6:n.2267-1232T>C
NM_003105.5:c.2267-1232T>C	NP_003096.1:n.2267-1232T>C
XM_011542963.1:c.2267-1232T>C	XP_011541265.1:n.2267-1232T>C
XM_011542964.1:c.2267-1232T>C	XP_011541266.1:n.2267-1232T>C
XM_011542965.1:c.728-1232T>C	XP_011541267.1:n.728-1232T>C
XM_011542963.3:c.2267-1232T>C	XP_011541265.1:n.2267-1232T>C
XM_011542965.3:c.728-1232T>C	XP_011541267.1:n.728-1232T>C
XM_017018169.2:c.1955-1232T>C	XP_016873658.1:n.1955-1232T>C
XM_017018170.2:c.1742-1232T>C	XP_016873659.1:n.1742-1232T>C
XM_017018171.1:c.2267-1232T>C	XP_016873660.1:n.2267-1232T>C
XM_017018172.2:c.-282-1232T>C	XP_016873661.1:n.-282-1232T>C
NM_003105.6:c.2267-1232T>C MANE Select	NP_003096.2:n.2267-1232T>C