Canonical Allele Identifier: CA2616498013

Gene: SORL1

Linked Data

• gnomAD v4: 11-121558862-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121558862C>T , CM000673.2:g.121558862C>T	GRCh38
NC_000011.9:g.121429571C>T , CM000673.1:g.121429571C>T	GRCh37
NC_000011.8:g.120934781C>T	NCBI36
NG_023313.1:g.111611C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260197.12:c.2910+25C>T MANE Select	ENSP00000260197.6:n.2910+25C>T
ENST00000260197.11:c.2910+25C>T	ENSP00000260197.6:n.2910+25C>T
NM_003105.5:c.2910+25C>T	NP_003096.1:n.2910+25C>T
XM_011542963.1:c.2910+25C>T	XP_011541265.1:n.2910+25C>T
XM_011542964.1:c.2910+25C>T	XP_011541266.1:n.2910+25C>T
XM_011542965.1:c.1371+25C>T	XP_011541267.1:n.1371+25C>T
XM_011542966.1:c.270+25C>T	XP_011541268.1:n.270+25C>T
XM_011542963.3:c.2910+25C>T	XP_011541265.1:n.2910+25C>T
XM_011542965.3:c.1371+25C>T	XP_011541267.1:n.1371+25C>T
XM_017018169.2:c.2598+25C>T	XP_016873658.1:n.2598+25C>T
XM_017018170.2:c.2385+25C>T	XP_016873659.1:n.2385+25C>T
XM_017018171.1:c.2910+25C>T	XP_016873660.1:n.2910+25C>T
XM_017018172.2:c.270+25C>T	XP_016873661.1:n.270+25C>T
NM_003105.6:c.2910+25C>T MANE Select	NP_003096.2:n.2910+25C>T