Canonical Allele Identifier: CA602230890

Gene: SORL1

Linked Data

• dbSNP Id: rs754194175
• gnomAD v2: 11-121429559-G-T
• gnomAD v3: 11-121558850-G-T
• gnomAD v4: 11-121558850-G-T
• MyVariant Identifiers: chr11:g.121429559G>T (hg19) ; chr11:g.121558850G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121558850G>T , CM000673.2:g.121558850G>T	GRCh38
NC_000011.9:g.121429559G>T , CM000673.1:g.121429559G>T	GRCh37
NC_000011.8:g.120934769G>T	NCBI36
NG_023313.1:g.111599G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260197.12:c.2910+13G>T MANE Select	ENSP00000260197.6:n.2910+13G>T
ENST00000260197.11:c.2910+13G>T	ENSP00000260197.6:n.2910+13G>T
NM_003105.5:c.2910+13G>T	NP_003096.1:n.2910+13G>T
XM_011542963.1:c.2910+13G>T	XP_011541265.1:n.2910+13G>T
XM_011542964.1:c.2910+13G>T	XP_011541266.1:n.2910+13G>T
XM_011542965.1:c.1371+13G>T	XP_011541267.1:n.1371+13G>T
XM_011542966.1:c.270+13G>T	XP_011541268.1:n.270+13G>T
XM_011542963.3:c.2910+13G>T	XP_011541265.1:n.2910+13G>T
XM_011542965.3:c.1371+13G>T	XP_011541267.1:n.1371+13G>T
XM_017018169.2:c.2598+13G>T	XP_016873658.1:n.2598+13G>T
XM_017018170.2:c.2385+13G>T	XP_016873659.1:n.2385+13G>T
XM_017018171.1:c.2910+13G>T	XP_016873660.1:n.2910+13G>T
XM_017018172.2:c.270+13G>T	XP_016873661.1:n.270+13G>T
NM_003105.6:c.2910+13G>T MANE Select	NP_003096.2:n.2910+13G>T