Canonical Allele Identifier: CA2004925796

Gene: SORL1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121610768T= , CM000673.2:g.121610768T=	GRCh38
NC_000011.9:g.121481477T= , CM000673.1:g.121481477T=	GRCh37
NC_000011.8:g.120986687T=	NCBI36
NG_023313.1:g.163517T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260197.12:c.5240-308T= MANE Select	ENSP00000260197.6:n.5240-308T=
ENST00000260197.11:c.5240-308T=	ENSP00000260197.6:n.5240-308T=
ENST00000525532.5:c.2072-308T=	ENSP00000434634.1:n.2072-308T=
ENST00000527934.1:c.1085-308T=	ENSP00000435405.1:n.1085-308T=
ENST00000528339.5:n.2569T=
ENST00000532694.5:c.1778-308T=	ENSP00000432131.1:n.1778-308T=
ENST00000534286.5:c.1970-308T=	ENSP00000436447.1:n.1970-308T=
NM_003105.5:c.5240-308T=	NP_003096.1:n.5240-308T=
XM_011542963.1:c.5126-308T=	XP_011541265.1:n.5126-308T=
XM_011542964.1:c.*48-308T=	XP_011541266.1:n.*48-308T=
XM_011542965.1:c.3701-308T=	XP_011541267.1:n.3701-308T=
XM_011542966.1:c.2600-308T=	XP_011541268.1:n.2600-308T=
XM_011542967.1:c.2072-308T=	XP_011541269.1:n.2072-308T=
XM_011542963.3:c.5126-308T=	XP_011541265.1:n.5126-308T=
XM_011542965.3:c.3701-308T=	XP_011541267.1:n.3701-308T=
XM_011542967.3:c.2072-308T=	XP_011541269.1:n.2072-308T=
XM_017018169.2:c.4928-308T=	XP_016873658.1:n.4928-308T=
XM_017018170.2:c.4715-308T=	XP_016873659.1:n.4715-308T=
XM_017018171.1:c.*1284T=	XP_016873660.1:n.*1284T=
XM_017018172.2:c.2600-308T=	XP_016873661.1:n.2600-308T=
NM_003105.6:c.5240-308T= MANE Select	NP_003096.2:n.5240-308T=