Canonical Allele Identifier: CA672591866

Gene: SORL1

Linked Data

• dbSNP Id: rs868437501
• gnomAD v3: 11-121610658-G-C
• gnomAD v4: 11-121610658-G-C
• MyVariant Identifiers: chr11:g.121481367G>C (hg19) ; chr11:g.121610658G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121610658G>C , CM000673.2:g.121610658G>C	GRCh38
NC_000011.9:g.121481367G>C , CM000673.1:g.121481367G>C	GRCh37
NC_000011.8:g.120986577G>C	NCBI36
NG_023313.1:g.163407G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000260197.12:c.5240-418G>C MANE Select	ENSP00000260197.6:n.5240-418G>C
ENST00000260197.11:c.5240-418G>C	ENSP00000260197.6:n.5240-418G>C
ENST00000525532.5:c.2072-418G>C	ENSP00000434634.1:n.2072-418G>C
ENST00000527934.1:c.1085-418G>C	ENSP00000435405.1:n.1085-418G>C
ENST00000528339.5:n.2459G>C
ENST00000532694.5:c.1778-418G>C	ENSP00000432131.1:n.1778-418G>C
ENST00000534286.5:c.1970-418G>C	ENSP00000436447.1:n.1970-418G>C
NM_003105.5:c.5240-418G>C	NP_003096.1:n.5240-418G>C
XM_011542963.1:c.5126-418G>C	XP_011541265.1:n.5126-418G>C
XM_011542964.1:c.*48-418G>C	XP_011541266.1:n.*48-418G>C
XM_011542965.1:c.3701-418G>C	XP_011541267.1:n.3701-418G>C
XM_011542966.1:c.2600-418G>C	XP_011541268.1:n.2600-418G>C
XM_011542967.1:c.2072-418G>C	XP_011541269.1:n.2072-418G>C
XM_011542963.3:c.5126-418G>C	XP_011541265.1:n.5126-418G>C
XM_011542965.3:c.3701-418G>C	XP_011541267.1:n.3701-418G>C
XM_011542967.3:c.2072-418G>C	XP_011541269.1:n.2072-418G>C
XM_017018169.2:c.4928-418G>C	XP_016873658.1:n.4928-418G>C
XM_017018170.2:c.4715-418G>C	XP_016873659.1:n.4715-418G>C
XM_017018171.1:c.*1174G>C	XP_016873660.1:n.*1174G>C
XM_017018172.2:c.2600-418G>C	XP_016873661.1:n.2600-418G>C
NM_003105.6:c.5240-418G>C MANE Select	NP_003096.2:n.5240-418G>C