Canonical Allele Identifier: CA383033907

Gene: SORL1

Linked Data

• MyVariant Identifiers: chr11:g.121424784T>G (hg19) ; chr11:g.121554075T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121554075T>G , CM000673.2:g.121554075T>G	GRCh38
NC_000011.9:g.121424784T>G , CM000673.1:g.121424784T>G	GRCh37
NC_000011.8:g.120929994T>G	NCBI36
NG_023313.1:g.106824T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000260197.12:c.2405T>G MANE Select	ENSP00000260197.6:p.Leu802Trp
ENST00000260197.11:c.2405T>G	ENSP00000260197.6:p.Leu802Trp
NM_003105.5:c.2405T>G	NP_003096.1:p.Leu802Trp
XM_011542963.1:c.2405T>G	XP_011541265.1:p.Leu802Trp
XM_011542964.1:c.2405T>G	XP_011541266.1:p.Leu802Trp
XM_011542965.1:c.866T>G	XP_011541267.1:p.Leu289Trp
XM_011542963.3:c.2405T>G	XP_011541265.1:p.Leu802Trp
XM_011542965.3:c.866T>G	XP_011541267.1:p.Leu289Trp
XM_017018169.2:c.2093T>G	XP_016873658.1:p.Leu698Trp
XM_017018170.2:c.1880T>G	XP_016873659.1:p.Leu627Trp
XM_017018171.1:c.2405T>G	XP_016873660.1:p.Leu802Trp
XM_017018172.2:c.-144T>G	XP_016873661.1:n.-144T>G
NM_003105.6:c.2405T>G MANE Select	NP_003096.2:p.Leu802Trp