Canonical Allele Identifier: CA942930398

Gene: SORL1

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121568956T>A , CM000673.2:g.121568956T>A	GRCh38
NC_000011.9:g.121439665T>A , CM000673.1:g.121439665T>A	GRCh37
NC_000011.8:g.120944875T>A	NCBI36
NG_023313.1:g.121705T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260197.12:c.3224-1201T>A MANE Select	ENSP00000260197.6:n.3224-1201T>A
ENST00000260197.11:c.3224-1201T>A	ENSP00000260197.6:n.3224-1201T>A
ENST00000525532.5:c.56-1201T>A	ENSP00000434634.1:n.56-1201T>A
NM_003105.5:c.3224-1201T>A	NP_003096.1:n.3224-1201T>A
XM_011542963.1:c.3223+1843T>A	XP_011541265.1:n.3223+1843T>A
XM_011542964.1:c.3224-1201T>A	XP_011541266.1:n.3224-1201T>A
XM_011542965.1:c.1685-1201T>A	XP_011541267.1:n.1685-1201T>A
XM_011542966.1:c.584-1201T>A	XP_011541268.1:n.584-1201T>A
XM_011542967.1:c.56-1201T>A	XP_011541269.1:n.56-1201T>A
XM_011542963.3:c.3223+1843T>A	XP_011541265.1:n.3223+1843T>A
XM_011542965.3:c.1685-1201T>A	XP_011541267.1:n.1685-1201T>A
XM_011542967.3:c.56-1201T>A	XP_011541269.1:n.56-1201T>A
XM_017018169.2:c.2912-1201T>A	XP_016873658.1:n.2912-1201T>A
XM_017018170.2:c.2699-1201T>A	XP_016873659.1:n.2699-1201T>A
XM_017018171.1:c.3224-1201T>A	XP_016873660.1:n.3224-1201T>A
XM_017018172.2:c.584-1201T>A	XP_016873661.1:n.584-1201T>A
NM_003105.6:c.3224-1201T>A MANE Select	NP_003096.2:n.3224-1201T>A