Canonical Allele Identifier: CA383033908

Gene: SORL1

Linked Data

• MyVariant Identifiers: chr11:g.121424785G>C (hg19) ; chr11:g.121554076G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121554076G>C , CM000673.2:g.121554076G>C	GRCh38
NC_000011.9:g.121424785G>C , CM000673.1:g.121424785G>C	GRCh37
NC_000011.8:g.120929995G>C	NCBI36
NG_023313.1:g.106825G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000260197.12:c.2406G>C MANE Select	ENSP00000260197.6:p.Leu802Phe
ENST00000260197.11:c.2406G>C	ENSP00000260197.6:p.Leu802Phe
NM_003105.5:c.2406G>C	NP_003096.1:p.Leu802Phe
XM_011542963.1:c.2406G>C	XP_011541265.1:p.Leu802Phe
XM_011542964.1:c.2406G>C	XP_011541266.1:p.Leu802Phe
XM_011542965.1:c.867G>C	XP_011541267.1:p.Leu289Phe
XM_011542963.3:c.2406G>C	XP_011541265.1:p.Leu802Phe
XM_011542965.3:c.867G>C	XP_011541267.1:p.Leu289Phe
XM_017018169.2:c.2094G>C	XP_016873658.1:p.Leu698Phe
XM_017018170.2:c.1881G>C	XP_016873659.1:p.Leu627Phe
XM_017018171.1:c.2406G>C	XP_016873660.1:p.Leu802Phe
XM_017018172.2:c.-143G>C	XP_016873661.1:n.-143G>C
NM_003105.6:c.2406G>C MANE Select	NP_003096.2:p.Leu802Phe