Canonical Allele Identifier: CA942945777

Gene: SORL1

Linked Data

• gnomAD v3: 11-121486519-G-T
• gnomAD v4: 11-121486519-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121486519G>T , CM000673.2:g.121486519G>T	GRCh38
NC_000011.9:g.121357228G>T , CM000673.1:g.121357228G>T	GRCh37
NC_000011.8:g.120862438G>T	NCBI36
NG_023313.1:g.39268G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260197.12:c.529-1513G>T MANE Select	ENSP00000260197.6:n.529-1513G>T
ENST00000260197.11:c.529-1513G>T	ENSP00000260197.6:n.529-1513G>T
ENST00000532451.1:n.481-1513G>T
NM_003105.5:c.529-1513G>T	NP_003096.1:n.529-1513G>T
XM_011542963.1:c.529-1513G>T	XP_011541265.1:n.529-1513G>T
XM_011542964.1:c.529-1513G>T	XP_011541266.1:n.529-1513G>T
XM_011542963.3:c.529-1513G>T	XP_011541265.1:n.529-1513G>T
XM_017018169.2:c.217-1513G>T	XP_016873658.1:n.217-1513G>T
XM_017018170.2:c.3+62G>T	XP_016873659.1:n.3+62G>T
XM_017018171.1:c.529-1513G>T	XP_016873660.1:n.529-1513G>T
NM_003105.6:c.529-1513G>T MANE Select	NP_003096.2:n.529-1513G>T