Canonical Allele Identifier: CA477218056

Gene: SORL1

Linked Data

• MyVariant Identifiers: chr11:g.121393315T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121522606T>C , CM000673.2:g.121522606T>C	GRCh38
NC_000011.9:g.121393315T>C , CM000673.1:g.121393315T>C	GRCh37
NC_000011.8:g.120898525T>C	NCBI36
NG_023313.1:g.75355T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260197.12:c.1425T>C MANE Select	ENSP00000260197.6:p.Leu475=
ENST00000260197.11:c.1425T>C	ENSP00000260197.6:p.Leu475=
ENST00000532451.1:n.1377T>C
NM_003105.5:c.1425T>C	NP_003096.1:p.Leu475=
XM_011542963.1:c.1425T>C	XP_011541265.1:p.Leu475=
XM_011542964.1:c.1425T>C	XP_011541266.1:p.Leu475=
XM_011542965.1:c.-198T>C	XP_011541267.1:n.-198T>C
XM_011542963.3:c.1425T>C	XP_011541265.1:p.Leu475=
XM_011542965.3:c.-198T>C	XP_011541267.1:n.-198T>C
XM_017018169.2:c.1113T>C	XP_016873658.1:p.Leu371=
XM_017018170.2:c.900T>C	XP_016873659.1:p.Leu300=
XM_017018171.1:c.1425T>C	XP_016873660.1:p.Leu475=
NM_003105.6:c.1425T>C MANE Select	NP_003096.2:p.Leu475=