Canonical Allele Identifier: CA2004910388

Gene: SORL1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121522597C= , CM000673.2:g.121522597C=	GRCh38
NC_000011.9:g.121393306C= , CM000673.1:g.121393306C=	GRCh37
NC_000011.8:g.120898516C=	NCBI36
NG_023313.1:g.75346C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260197.12:c.1416C= MANE Select	ENSP00000260197.6:p.Gly472=
ENST00000260197.11:c.1416C=	ENSP00000260197.6:p.Gly472=
ENST00000532451.1:n.1368C=
NM_003105.5:c.1416C=	NP_003096.1:p.Gly472=
XM_011542963.1:c.1416C=	XP_011541265.1:p.Gly472=
XM_011542964.1:c.1416C=	XP_011541266.1:p.Gly472=
XM_011542965.1:c.-207C=	XP_011541267.1:n.-207C=
XM_011542963.3:c.1416C=	XP_011541265.1:p.Gly472=
XM_011542965.3:c.-207C=	XP_011541267.1:n.-207C=
XM_017018169.2:c.1104C=	XP_016873658.1:p.Gly368=
XM_017018170.2:c.891C=	XP_016873659.1:p.Gly297=
XM_017018171.1:c.1416C=	XP_016873660.1:p.Gly472=
NM_003105.6:c.1416C= MANE Select	NP_003096.2:p.Gly472=