Canonical Allele Identifier: CA942946739

Gene: SORL1

Linked Data

• dbSNP Id: rs1863673530
• gnomAD v3: 11-121618627-T-C
• gnomAD v4: 11-121618627-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121618627T>C , CM000673.2:g.121618627T>C	GRCh38
NC_000011.9:g.121489336T>C , CM000673.1:g.121489336T>C	GRCh37
NC_000011.8:g.120994546T>C	NCBI36
NG_023313.1:g.171376T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000260197.12:c.5605-147T>C MANE Select	ENSP00000260197.6:n.5605-147T>C
ENST00000260197.11:c.5605-147T>C	ENSP00000260197.6:n.5605-147T>C
ENST00000524633.1:n.771-147T>C
ENST00000525532.5:c.2437-147T>C	ENSP00000434634.1:n.2437-147T>C
ENST00000527934.1:c.1450-147T>C	ENSP00000435405.1:n.1450-147T>C
ENST00000528339.5:n.3242-147T>C
ENST00000532694.5:c.2143-147T>C	ENSP00000432131.1:n.2143-147T>C
ENST00000534286.5:c.2335-147T>C	ENSP00000436447.1:n.2335-147T>C
ENST00000534754.5:n.1767-147T>C
NM_003105.5:c.5605-147T>C	NP_003096.1:n.5605-147T>C
XM_011542963.1:c.5491-147T>C	XP_011541265.1:n.5491-147T>C
XM_011542965.1:c.4066-147T>C	XP_011541267.1:n.4066-147T>C
XM_011542966.1:c.2965-147T>C	XP_011541268.1:n.2965-147T>C
XM_011542967.1:c.2437-147T>C	XP_011541269.1:n.2437-147T>C
XM_011542963.3:c.5491-147T>C	XP_011541265.1:n.5491-147T>C
XM_011542965.3:c.4066-147T>C	XP_011541267.1:n.4066-147T>C
XM_011542967.3:c.2437-147T>C	XP_011541269.1:n.2437-147T>C
XM_017018169.2:c.5293-147T>C	XP_016873658.1:n.5293-147T>C
XM_017018170.2:c.5080-147T>C	XP_016873659.1:n.5080-147T>C
XM_017018172.2:c.2965-147T>C	XP_016873661.1:n.2965-147T>C
NM_003105.6:c.5605-147T>C MANE Select	NP_003096.2:n.5605-147T>C