Canonical Allele Identifier: CA942929000

Gene: SORL1

Linked Data

• dbSNP Id: rs1862711840
• gnomAD v3: 11-121563783-G-C
• gnomAD v4: 11-121563783-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121563783G>C , CM000673.2:g.121563783G>C	GRCh38
NC_000011.9:g.121434492G>C , CM000673.1:g.121434492G>C	GRCh37
NC_000011.8:g.120939702G>C	NCBI36
NG_023313.1:g.116532G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000260197.12:c.3050-3157G>C MANE Select	ENSP00000260197.6:n.3050-3157G>C
ENST00000260197.11:c.3050-3157G>C	ENSP00000260197.6:n.3050-3157G>C
NM_003105.5:c.3050-3157G>C	NP_003096.1:n.3050-3157G>C
XM_011542963.1:c.3050-3157G>C	XP_011541265.1:n.3050-3157G>C
XM_011542964.1:c.3050-3157G>C	XP_011541266.1:n.3050-3157G>C
XM_011542965.1:c.1511-3157G>C	XP_011541267.1:n.1511-3157G>C
XM_011542966.1:c.410-3157G>C	XP_011541268.1:n.410-3157G>C
XM_011542963.3:c.3050-3157G>C	XP_011541265.1:n.3050-3157G>C
XM_011542965.3:c.1511-3157G>C	XP_011541267.1:n.1511-3157G>C
XM_017018169.2:c.2738-3157G>C	XP_016873658.1:n.2738-3157G>C
XM_017018170.2:c.2525-3157G>C	XP_016873659.1:n.2525-3157G>C
XM_017018171.1:c.3050-3157G>C	XP_016873660.1:n.3050-3157G>C
XM_017018172.2:c.410-3157G>C	XP_016873661.1:n.410-3157G>C
NM_003105.6:c.3050-3157G>C MANE Select	NP_003096.2:n.3050-3157G>C