Canonical Allele Identifier: CA2004886940

Gene: SORL1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121490409G= , CM000673.2:g.121490409G=	GRCh38
NC_000011.9:g.121361118G= , CM000673.1:g.121361118G=	GRCh37
NC_000011.8:g.120866328G=	NCBI36
NG_023313.1:g.43158G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260197.12:c.758+299G= MANE Select	ENSP00000260197.6:n.758+299G=
ENST00000260197.11:c.758+299G=	ENSP00000260197.6:n.758+299G=
ENST00000532451.1:n.710+299G=
NM_003105.5:c.758+299G=	NP_003096.1:n.758+299G=
XM_011542963.1:c.758+299G=	XP_011541265.1:n.758+299G=
XM_011542964.1:c.758+299G=	XP_011541266.1:n.758+299G=
XM_011542963.3:c.758+299G=	XP_011541265.1:n.758+299G=
XM_017018169.2:c.446+299G=	XP_016873658.1:n.446+299G=
XM_017018170.2:c.233+299G=	XP_016873659.1:n.233+299G=
XM_017018171.1:c.758+299G=	XP_016873660.1:n.758+299G=
NM_003105.6:c.758+299G= MANE Select	NP_003096.2:n.758+299G=