Canonical Allele Identifier: CA2004865743

Gene: SORL1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121458245T= , CM000673.2:g.121458245T=	GRCh38
NC_000011.9:g.121328954T= , CM000673.1:g.121328954T=	GRCh37
NC_000011.8:g.120834164T=	NCBI36
NG_023313.1:g.10994T=

Transcript Alleles

HGVS	Amino-acid Change
NM_003105.6:c.285+5629T= MANE Select	NP_003096.2:n.285+5629T=
ENST00000260197.12:c.285+5629T= MANE Select	ENSP00000260197.6:n.285+5629T=
NM_003105.5:c.285+5629T=	NP_003096.1:n.285+5629T=
ENST00000260197.11:c.285+5629T=	ENSP00000260197.6:n.285+5629T=
ENST00000532451.1:n.237+5629T=
XM_011542963.1:c.285+5629T=	XP_011541265.1:n.285+5629T=
XM_011542963.3:c.285+5629T=	XP_011541265.1:n.285+5629T=
XM_011542964.1:c.285+5629T=	XP_011541266.1:n.285+5629T=
XM_017018169.2:c.-28+5417T=	XP_016873658.1:n.-28+5417T=
XM_017018171.1:c.285+5629T=	XP_016873660.1:n.285+5629T=