Canonical Allele Identifier: CA383036192

Gene: SORL1

Linked Data

• dbSNP Id: rs1446275509
• gnomAD v2: 11-121429541-T-C
• gnomAD v4: 11-121558832-T-C
• MyVariant Identifiers: chr11:g.121429541T>C (hg19) ; chr11:g.121558832T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121558832T>C , CM000673.2:g.121558832T>C	GRCh38
NC_000011.9:g.121429541T>C , CM000673.1:g.121429541T>C	GRCh37
NC_000011.8:g.120934751T>C	NCBI36
NG_023313.1:g.111581T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260197.12:c.2905T>C MANE Select	ENSP00000260197.6:p.Phe969Leu
ENST00000260197.11:c.2905T>C	ENSP00000260197.6:p.Phe969Leu
ENST00000529445.1:n.611T>C
NM_003105.5:c.2905T>C	NP_003096.1:p.Phe969Leu
XM_011542963.1:c.2905T>C	XP_011541265.1:p.Phe969Leu
XM_011542964.1:c.2905T>C	XP_011541266.1:p.Phe969Leu
XM_011542965.1:c.1366T>C	XP_011541267.1:p.Phe456Leu
XM_011542966.1:c.265T>C	XP_011541268.1:p.Phe89Leu
XM_011542963.3:c.2905T>C	XP_011541265.1:p.Phe969Leu
XM_011542965.3:c.1366T>C	XP_011541267.1:p.Phe456Leu
XM_017018169.2:c.2593T>C	XP_016873658.1:p.Phe865Leu
XM_017018170.2:c.2380T>C	XP_016873659.1:p.Phe794Leu
XM_017018171.1:c.2905T>C	XP_016873660.1:p.Phe969Leu
XM_017018172.2:c.265T>C	XP_016873661.1:p.Phe89Leu
NM_003105.6:c.2905T>C MANE Select	NP_003096.2:p.Phe969Leu