Canonical Allele Identifier: CA477218634

Gene: SORL1

Linked Data

• MyVariant Identifiers: chr11:g.121424701G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121553992G>C , CM000673.2:g.121553992G>C	GRCh38
NC_000011.9:g.121424701G>C , CM000673.1:g.121424701G>C	GRCh37
NC_000011.8:g.120929911G>C	NCBI36
NG_023313.1:g.106741G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000260197.12:c.2322G>C MANE Select	ENSP00000260197.6:p.Leu774=
ENST00000260197.11:c.2322G>C	ENSP00000260197.6:p.Leu774=
NM_003105.5:c.2322G>C	NP_003096.1:p.Leu774=
XM_011542963.1:c.2322G>C	XP_011541265.1:p.Leu774=
XM_011542964.1:c.2322G>C	XP_011541266.1:p.Leu774=
XM_011542965.1:c.783G>C	XP_011541267.1:p.Leu261=
XM_011542963.3:c.2322G>C	XP_011541265.1:p.Leu774=
XM_011542965.3:c.783G>C	XP_011541267.1:p.Leu261=
XM_017018169.2:c.2010G>C	XP_016873658.1:p.Leu670=
XM_017018170.2:c.1797G>C	XP_016873659.1:p.Leu599=
XM_017018171.1:c.2322G>C	XP_016873660.1:p.Leu774=
XM_017018172.2:c.-227G>C	XP_016873661.1:n.-227G>C
NM_003105.6:c.2322G>C MANE Select	NP_003096.2:p.Leu774=