Canonical Allele Identifier: CA2616504248

Gene: SORL1

Linked Data

• gnomAD v4: 11-121610619-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121610619C>T , CM000673.2:g.121610619C>T	GRCh38
NC_000011.9:g.121481328C>T , CM000673.1:g.121481328C>T	GRCh37
NC_000011.8:g.120986538C>T	NCBI36
NG_023313.1:g.163368C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260197.12:c.5240-457C>T MANE Select	ENSP00000260197.6:n.5240-457C>T
ENST00000260197.11:c.5240-457C>T	ENSP00000260197.6:n.5240-457C>T
ENST00000525532.5:c.2072-457C>T	ENSP00000434634.1:n.2072-457C>T
ENST00000527934.1:c.1085-457C>T	ENSP00000435405.1:n.1085-457C>T
ENST00000528339.5:n.2420C>T
ENST00000532694.5:c.1778-457C>T	ENSP00000432131.1:n.1778-457C>T
ENST00000534286.5:c.1970-457C>T	ENSP00000436447.1:n.1970-457C>T
NM_003105.5:c.5240-457C>T	NP_003096.1:n.5240-457C>T
XM_011542963.1:c.5126-457C>T	XP_011541265.1:n.5126-457C>T
XM_011542964.1:c.*48-457C>T	XP_011541266.1:n.*48-457C>T
XM_011542965.1:c.3701-457C>T	XP_011541267.1:n.3701-457C>T
XM_011542966.1:c.2600-457C>T	XP_011541268.1:n.2600-457C>T
XM_011542967.1:c.2072-457C>T	XP_011541269.1:n.2072-457C>T
XM_011542963.3:c.5126-457C>T	XP_011541265.1:n.5126-457C>T
XM_011542965.3:c.3701-457C>T	XP_011541267.1:n.3701-457C>T
XM_011542967.3:c.2072-457C>T	XP_011541269.1:n.2072-457C>T
XM_017018169.2:c.4928-457C>T	XP_016873658.1:n.4928-457C>T
XM_017018170.2:c.4715-457C>T	XP_016873659.1:n.4715-457C>T
XM_017018171.1:c.*1135C>T	XP_016873660.1:n.*1135C>T
XM_017018172.2:c.2600-457C>T	XP_016873661.1:n.2600-457C>T
NM_003105.6:c.5240-457C>T MANE Select	NP_003096.2:n.5240-457C>T