Canonical Allele Identifier: CA383035620

Gene: SORL1

Linked Data

• MyVariant Identifiers: chr11:g.121429316G>C (hg19) ; chr11:g.121558607G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121558607G>C , CM000673.2:g.121558607G>C	GRCh38
NC_000011.9:g.121429316G>C , CM000673.1:g.121429316G>C	GRCh37
NC_000011.8:g.120934526G>C	NCBI36
NG_023313.1:g.111356G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260197.12:c.2680G>C MANE Select	ENSP00000260197.6:p.Asp894His
ENST00000260197.11:c.2680G>C	ENSP00000260197.6:p.Asp894His
ENST00000524873.1:n.408G>C
ENST00000529445.1:n.386G>C
NM_003105.5:c.2680G>C	NP_003096.1:p.Asp894His
XM_011542963.1:c.2680G>C	XP_011541265.1:p.Asp894His
XM_011542964.1:c.2680G>C	XP_011541266.1:p.Asp894His
XM_011542965.1:c.1141G>C	XP_011541267.1:p.Asp381His
XM_011542966.1:c.40G>C	XP_011541268.1:p.Asp14His
XM_011542963.3:c.2680G>C	XP_011541265.1:p.Asp894His
XM_011542965.3:c.1141G>C	XP_011541267.1:p.Asp381His
XM_017018169.2:c.2368G>C	XP_016873658.1:p.Asp790His
XM_017018170.2:c.2155G>C	XP_016873659.1:p.Asp719His
XM_017018171.1:c.2680G>C	XP_016873660.1:p.Asp894His
XM_017018172.2:c.40G>C	XP_016873661.1:p.Asp14His
NM_003105.6:c.2680G>C MANE Select	NP_003096.2:p.Asp894His