Canonical Allele Identifier: CA229907176

Gene: SORL1

Linked Data

• dbSNP Id: rs770852212
• gnomAD v2: 11-121434411-C-T
• gnomAD v3: 11-121563702-C-T
• gnomAD v4: 11-121563702-C-T
• MyVariant Identifiers: chr11:g.121434411C>T (hg19) ; chr11:g.121563702C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121563702C>T , CM000673.2:g.121563702C>T	GRCh38
NC_000011.9:g.121434411C>T , CM000673.1:g.121434411C>T	GRCh37
NC_000011.8:g.120939621C>T	NCBI36
NG_023313.1:g.116451C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000260197.12:c.3050-3238C>T MANE Select	ENSP00000260197.6:n.3050-3238C>T
ENST00000260197.11:c.3050-3238C>T	ENSP00000260197.6:n.3050-3238C>T
NM_003105.5:c.3050-3238C>T	NP_003096.1:n.3050-3238C>T
XM_011542963.1:c.3050-3238C>T	XP_011541265.1:n.3050-3238C>T
XM_011542964.1:c.3050-3238C>T	XP_011541266.1:n.3050-3238C>T
XM_011542965.1:c.1511-3238C>T	XP_011541267.1:n.1511-3238C>T
XM_011542966.1:c.410-3238C>T	XP_011541268.1:n.410-3238C>T
XM_011542963.3:c.3050-3238C>T	XP_011541265.1:n.3050-3238C>T
XM_011542965.3:c.1511-3238C>T	XP_011541267.1:n.1511-3238C>T
XM_017018169.2:c.2738-3238C>T	XP_016873658.1:n.2738-3238C>T
XM_017018170.2:c.2525-3238C>T	XP_016873659.1:n.2525-3238C>T
XM_017018171.1:c.3050-3238C>T	XP_016873660.1:n.3050-3238C>T
XM_017018172.2:c.410-3238C>T	XP_016873661.1:n.410-3238C>T
NM_003105.6:c.3050-3238C>T MANE Select	NP_003096.2:n.3050-3238C>T