Canonical Allele Identifier: CA2004925712

Gene: SORL1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121610570C= , CM000673.2:g.121610570C=	GRCh38
NC_000011.9:g.121481279C= , CM000673.1:g.121481279C=	GRCh37
NC_000011.8:g.120986489C=	NCBI36
NG_023313.1:g.163319C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000260197.12:c.5240-506C= MANE Select	ENSP00000260197.6:n.5240-506C=
ENST00000260197.11:c.5240-506C=	ENSP00000260197.6:n.5240-506C=
ENST00000525532.5:c.2072-506C=	ENSP00000434634.1:n.2072-506C=
ENST00000527934.1:c.1085-506C=	ENSP00000435405.1:n.1085-506C=
ENST00000528339.5:n.2371C=
ENST00000532694.5:c.1778-506C=	ENSP00000432131.1:n.1778-506C=
ENST00000534286.5:c.1970-506C=	ENSP00000436447.1:n.1970-506C=
NM_003105.5:c.5240-506C=	NP_003096.1:n.5240-506C=
XM_011542963.1:c.5126-506C=	XP_011541265.1:n.5126-506C=
XM_011542964.1:c.*48-506C=	XP_011541266.1:n.*48-506C=
XM_011542965.1:c.3701-506C=	XP_011541267.1:n.3701-506C=
XM_011542966.1:c.2600-506C=	XP_011541268.1:n.2600-506C=
XM_011542967.1:c.2072-506C=	XP_011541269.1:n.2072-506C=
XM_011542963.3:c.5126-506C=	XP_011541265.1:n.5126-506C=
XM_011542965.3:c.3701-506C=	XP_011541267.1:n.3701-506C=
XM_011542967.3:c.2072-506C=	XP_011541269.1:n.2072-506C=
XM_017018169.2:c.4928-506C=	XP_016873658.1:n.4928-506C=
XM_017018170.2:c.4715-506C=	XP_016873659.1:n.4715-506C=
XM_017018171.1:c.*1086C=	XP_016873660.1:n.*1086C=
XM_017018172.2:c.2600-506C=	XP_016873661.1:n.2600-506C=
NM_003105.6:c.5240-506C= MANE Select	NP_003096.2:n.5240-506C=