Canonical Allele Identifier: CA383036064

Gene: SORL1

Linked Data

• MyVariant Identifiers: chr11:g.121429480C>A (hg19) ; chr11:g.121558771C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121558771C>A , CM000673.2:g.121558771C>A	GRCh38
NC_000011.9:g.121429480C>A , CM000673.1:g.121429480C>A	GRCh37
NC_000011.8:g.120934690C>A	NCBI36
NG_023313.1:g.111520C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000260197.12:c.2844C>A MANE Select	ENSP00000260197.6:p.Phe948Leu
ENST00000260197.11:c.2844C>A	ENSP00000260197.6:p.Phe948Leu
ENST00000524873.1:n.572C>A
ENST00000529445.1:n.550C>A
NM_003105.5:c.2844C>A	NP_003096.1:p.Phe948Leu
XM_011542963.1:c.2844C>A	XP_011541265.1:p.Phe948Leu
XM_011542964.1:c.2844C>A	XP_011541266.1:p.Phe948Leu
XM_011542965.1:c.1305C>A	XP_011541267.1:p.Phe435Leu
XM_011542966.1:c.204C>A	XP_011541268.1:p.Phe68Leu
XM_011542963.3:c.2844C>A	XP_011541265.1:p.Phe948Leu
XM_011542965.3:c.1305C>A	XP_011541267.1:p.Phe435Leu
XM_017018169.2:c.2532C>A	XP_016873658.1:p.Phe844Leu
XM_017018170.2:c.2319C>A	XP_016873659.1:p.Phe773Leu
XM_017018171.1:c.2844C>A	XP_016873660.1:p.Phe948Leu
XM_017018172.2:c.204C>A	XP_016873661.1:p.Phe68Leu
NM_003105.6:c.2844C>A MANE Select	NP_003096.2:p.Phe948Leu