Canonical Allele Identifier: CA477218110

Gene: SORL1

Linked Data

• MyVariant Identifiers: chr11:g.121393390T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121522681T>G , CM000673.2:g.121522681T>G	GRCh38
NC_000011.9:g.121393390T>G , CM000673.1:g.121393390T>G	GRCh37
NC_000011.8:g.120898600T>G	NCBI36
NG_023313.1:g.75430T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260197.12:c.1500T>G MANE Select	ENSP00000260197.6:p.Ala500=
ENST00000260197.11:c.1500T>G	ENSP00000260197.6:p.Ala500=
ENST00000532451.1:n.1452T>G
NM_003105.5:c.1500T>G	NP_003096.1:p.Ala500=
XM_011542963.1:c.1500T>G	XP_011541265.1:p.Ala500=
XM_011542964.1:c.1500T>G	XP_011541266.1:p.Ala500=
XM_011542965.1:c.-123T>G	XP_011541267.1:n.-123T>G
XM_011542963.3:c.1500T>G	XP_011541265.1:p.Ala500=
XM_011542965.3:c.-123T>G	XP_011541267.1:n.-123T>G
XM_017018169.2:c.1188T>G	XP_016873658.1:p.Ala396=
XM_017018170.2:c.975T>G	XP_016873659.1:p.Ala325=
XM_017018171.1:c.1500T>G	XP_016873660.1:p.Ala500=
NM_003105.6:c.1500T>G MANE Select	NP_003096.2:p.Ala500=