Canonical Allele Identifier: CA2004926649

Gene: SORL1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121612692C= , CM000673.2:g.121612692C=	GRCh38
NC_000011.9:g.121483401C= , CM000673.1:g.121483401C=	GRCh37
NC_000011.8:g.120988611C=	NCBI36
NG_023313.1:g.165441C=

Transcript Alleles

HGVS	Amino-acid Change
NM_003105.6:c.5323-44C= MANE Select	NP_003096.2:n.5323-44C=
ENST00000260197.12:c.5323-44C= MANE Select	ENSP00000260197.6:n.5323-44C=
NM_003105.5:c.5323-44C=	NP_003096.1:n.5323-44C=
ENST00000260197.11:c.5323-44C=	ENSP00000260197.6:n.5323-44C=
ENST00000525532.5:c.2155-44C=	ENSP00000434634.1:n.2155-44C=
ENST00000527934.1:c.1168-44C=	ENSP00000435405.1:n.1168-44C=
ENST00000528339.5:n.2960-44C=
ENST00000532694.5:c.1861-44C=	ENSP00000432131.1:n.1861-44C=
ENST00000534286.5:c.2053-44C=	ENSP00000436447.1:n.2053-44C=
ENST00000534754.5:n.1441C=
XM_011542963.1:c.5209-44C=	XP_011541265.1:n.5209-44C=
XM_011542963.3:c.5209-44C=	XP_011541265.1:n.5209-44C=
XM_011542965.1:c.3784-44C=	XP_011541267.1:n.3784-44C=
XM_011542965.3:c.3784-44C=	XP_011541267.1:n.3784-44C=
XM_011542966.1:c.2683-44C=	XP_011541268.1:n.2683-44C=
XM_011542967.1:c.2155-44C=	XP_011541269.1:n.2155-44C=
XM_011542967.3:c.2155-44C=	XP_011541269.1:n.2155-44C=
XM_017018169.2:c.5011-44C=	XP_016873658.1:n.5011-44C=
XM_017018170.2:c.4798-44C=	XP_016873659.1:n.4798-44C=
XM_017018172.2:c.2683-44C=	XP_016873661.1:n.2683-44C=