Canonical Allele Identifier: CA383038420

Gene: SORL1

Linked Data

• MyVariant Identifiers: chr11:g.121475843T>G (hg19) ; chr11:g.121605134T>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260197.12:c.4673T>G MANE Select	ENSP00000260197.6:p.Val1558Gly
ENST00000260197.11:c.4673T>G	ENSP00000260197.6:p.Val1558Gly
ENST00000525532.5:c.1505T>G	ENSP00000434634.1:p.Val502Gly
ENST00000527934.1:c.518T>G	ENSP00000435405.1:p.Val173Gly
ENST00000532694.5:c.1211T>G	ENSP00000432131.1:p.Val404Gly
ENST00000534286.5:c.1403T>G	ENSP00000436447.1:p.Val468Gly
NM_003105.5:c.4673T>G	NP_003096.1:p.Val1558Gly
XM_011542963.1:c.4559T>G	XP_011541265.1:p.Val1520Gly
XM_011542964.1:c.4673T>G	XP_011541266.1:p.Val1558Gly
XM_011542965.1:c.3134T>G	XP_011541267.1:p.Val1045Gly
XM_011542966.1:c.2033T>G	XP_011541268.1:p.Val678Gly
XM_011542967.1:c.1505T>G	XP_011541269.1:p.Val502Gly
XM_011542963.3:c.4559T>G	XP_011541265.1:p.Val1520Gly
XM_011542965.3:c.3134T>G	XP_011541267.1:p.Val1045Gly
XM_011542967.3:c.1505T>G	XP_011541269.1:p.Val502Gly
XM_017018169.2:c.4361T>G	XP_016873658.1:p.Val1454Gly
XM_017018170.2:c.4148T>G	XP_016873659.1:p.Val1383Gly
XM_017018171.1:c.4673T>G	XP_016873660.1:p.Val1558Gly
XM_017018172.2:c.2033T>G	XP_016873661.1:p.Val678Gly
NM_003105.6:c.4673T>G MANE Select	NP_003096.2:p.Val1558Gly