Canonical Allele Identifier: CA672582414

Gene: SORL1

Linked Data

• dbSNP Id: rs1265212973
• gnomAD v3: 11-121552990-C-T
• gnomAD v4: 11-121552990-C-T
• MyVariant Identifiers: chr11:g.121423699C>T (hg19) ; chr11:g.121552990C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121552990C>T , CM000673.2:g.121552990C>T	GRCh38
NC_000011.9:g.121423699C>T , CM000673.1:g.121423699C>T	GRCh37
NC_000011.8:g.120928909C>T	NCBI36
NG_023313.1:g.105739C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260197.12:c.2267-947C>T MANE Select	ENSP00000260197.6:n.2267-947C>T
ENST00000260197.11:c.2267-947C>T	ENSP00000260197.6:n.2267-947C>T
NM_003105.5:c.2267-947C>T	NP_003096.1:n.2267-947C>T
XM_011542963.1:c.2267-947C>T	XP_011541265.1:n.2267-947C>T
XM_011542964.1:c.2267-947C>T	XP_011541266.1:n.2267-947C>T
XM_011542965.1:c.728-947C>T	XP_011541267.1:n.728-947C>T
XM_011542963.3:c.2267-947C>T	XP_011541265.1:n.2267-947C>T
XM_011542965.3:c.728-947C>T	XP_011541267.1:n.728-947C>T
XM_017018169.2:c.1955-947C>T	XP_016873658.1:n.1955-947C>T
XM_017018170.2:c.1742-947C>T	XP_016873659.1:n.1742-947C>T
XM_017018171.1:c.2267-947C>T	XP_016873660.1:n.2267-947C>T
XM_017018172.2:c.-282-947C>T	XP_016873661.1:n.-282-947C>T
NM_003105.6:c.2267-947C>T MANE Select	NP_003096.2:n.2267-947C>T