Canonical Allele Identifier: CA383038419

Gene: SORL1

Linked Data

• gnomAD v4: 11-121605134-T-C
• MyVariant Identifiers: chr11:g.121475843T>C (hg19) ; chr11:g.121605134T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121605134T>C , CM000673.2:g.121605134T>C	GRCh38
NC_000011.9:g.121475843T>C , CM000673.1:g.121475843T>C	GRCh37
NC_000011.8:g.120981053T>C	NCBI36
NG_023313.1:g.157883T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260197.12:c.4673T>C MANE Select	ENSP00000260197.6:p.Val1558Ala
ENST00000260197.11:c.4673T>C	ENSP00000260197.6:p.Val1558Ala
ENST00000525532.5:c.1505T>C	ENSP00000434634.1:p.Val502Ala
ENST00000527934.1:c.518T>C	ENSP00000435405.1:p.Val173Ala
ENST00000532694.5:c.1211T>C	ENSP00000432131.1:p.Val404Ala
ENST00000534286.5:c.1403T>C	ENSP00000436447.1:p.Val468Ala
NM_003105.5:c.4673T>C	NP_003096.1:p.Val1558Ala
XM_011542963.1:c.4559T>C	XP_011541265.1:p.Val1520Ala
XM_011542964.1:c.4673T>C	XP_011541266.1:p.Val1558Ala
XM_011542965.1:c.3134T>C	XP_011541267.1:p.Val1045Ala
XM_011542966.1:c.2033T>C	XP_011541268.1:p.Val678Ala
XM_011542967.1:c.1505T>C	XP_011541269.1:p.Val502Ala
XM_011542963.3:c.4559T>C	XP_011541265.1:p.Val1520Ala
XM_011542965.3:c.3134T>C	XP_011541267.1:p.Val1045Ala
XM_011542967.3:c.1505T>C	XP_011541269.1:p.Val502Ala
XM_017018169.2:c.4361T>C	XP_016873658.1:p.Val1454Ala
XM_017018170.2:c.4148T>C	XP_016873659.1:p.Val1383Ala
XM_017018171.1:c.4673T>C	XP_016873660.1:p.Val1558Ala
XM_017018172.2:c.2033T>C	XP_016873661.1:p.Val678Ala
NM_003105.6:c.4673T>C MANE Select	NP_003096.2:p.Val1558Ala