Canonical Allele Identifier: CA2616502488

Gene: SORL1

Linked Data

• gnomAD v4: 11-121604993-A-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121604993A>T , CM000673.2:g.121604993A>T	GRCh38
NC_000011.9:g.121475702A>T , CM000673.1:g.121475702A>T	GRCh37
NC_000011.8:g.120980912A>T	NCBI36
NG_023313.1:g.157742A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260197.12:c.4652-120A>T MANE Select	ENSP00000260197.6:n.4652-120A>T
ENST00000260197.11:c.4652-120A>T	ENSP00000260197.6:n.4652-120A>T
ENST00000525532.5:c.1484-120A>T	ENSP00000434634.1:n.1484-120A>T
ENST00000527934.1:c.497-120A>T	ENSP00000435405.1:n.497-120A>T
ENST00000532694.5:c.1190-120A>T	ENSP00000432131.1:n.1190-120A>T
ENST00000534286.5:c.1382-120A>T	ENSP00000436447.1:n.1382-120A>T
NM_003105.5:c.4652-120A>T	NP_003096.1:n.4652-120A>T
XM_011542963.1:c.4538-120A>T	XP_011541265.1:n.4538-120A>T
XM_011542964.1:c.4652-120A>T	XP_011541266.1:n.4652-120A>T
XM_011542965.1:c.3113-120A>T	XP_011541267.1:n.3113-120A>T
XM_011542966.1:c.2012-120A>T	XP_011541268.1:n.2012-120A>T
XM_011542967.1:c.1484-120A>T	XP_011541269.1:n.1484-120A>T
XM_011542963.3:c.4538-120A>T	XP_011541265.1:n.4538-120A>T
XM_011542965.3:c.3113-120A>T	XP_011541267.1:n.3113-120A>T
XM_011542967.3:c.1484-120A>T	XP_011541269.1:n.1484-120A>T
XM_017018169.2:c.4340-120A>T	XP_016873658.1:n.4340-120A>T
XM_017018170.2:c.4127-120A>T	XP_016873659.1:n.4127-120A>T
XM_017018171.1:c.4652-120A>T	XP_016873660.1:n.4652-120A>T
XM_017018172.2:c.2012-120A>T	XP_016873661.1:n.2012-120A>T
NM_003105.6:c.4652-120A>T MANE Select	NP_003096.2:n.4652-120A>T