Canonical Allele Identifier: CA602238950

Gene: SORL1

Linked Data

• dbSNP Id: rs1302077465
• gnomAD v2: 11-121489263-T-C
• MyVariant Identifiers: chr11:g.121489263T>C (hg19) ; chr11:g.121618554T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121618554T>C , CM000673.2:g.121618554T>C	GRCh38
NC_000011.9:g.121489263T>C , CM000673.1:g.121489263T>C	GRCh37
NC_000011.8:g.120994473T>C	NCBI36
NG_023313.1:g.171303T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260197.12:c.5605-220T>C MANE Select	ENSP00000260197.6:n.5605-220T>C
ENST00000260197.11:c.5605-220T>C	ENSP00000260197.6:n.5605-220T>C
ENST00000524633.1:n.771-220T>C
ENST00000525532.5:c.2437-220T>C	ENSP00000434634.1:n.2437-220T>C
ENST00000527934.1:c.1450-220T>C	ENSP00000435405.1:n.1450-220T>C
ENST00000528339.5:n.3242-220T>C
ENST00000532694.5:c.2143-220T>C	ENSP00000432131.1:n.2143-220T>C
ENST00000534286.5:c.2335-220T>C	ENSP00000436447.1:n.2335-220T>C
ENST00000534754.5:n.1767-220T>C
NM_003105.5:c.5605-220T>C	NP_003096.1:n.5605-220T>C
XM_011542963.1:c.5491-220T>C	XP_011541265.1:n.5491-220T>C
XM_011542965.1:c.4066-220T>C	XP_011541267.1:n.4066-220T>C
XM_011542966.1:c.2965-220T>C	XP_011541268.1:n.2965-220T>C
XM_011542967.1:c.2437-220T>C	XP_011541269.1:n.2437-220T>C
XM_011542963.3:c.5491-220T>C	XP_011541265.1:n.5491-220T>C
XM_011542965.3:c.4066-220T>C	XP_011541267.1:n.4066-220T>C
XM_011542967.3:c.2437-220T>C	XP_011541269.1:n.2437-220T>C
XM_017018169.2:c.5293-220T>C	XP_016873658.1:n.5293-220T>C
XM_017018170.2:c.5080-220T>C	XP_016873659.1:n.5080-220T>C
XM_017018172.2:c.2965-220T>C	XP_016873661.1:n.2965-220T>C
NM_003105.6:c.5605-220T>C MANE Select	NP_003096.2:n.5605-220T>C