Canonical Allele Identifier: CA383038940

Gene: SORL1

Linked Data

• MyVariant Identifiers: chr11:g.121475949G>A (hg19) ; chr11:g.121605240G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121605240G>A , CM000673.2:g.121605240G>A	GRCh38
NC_000011.9:g.121475949G>A , CM000673.1:g.121475949G>A	GRCh37
NC_000011.8:g.120981159G>A	NCBI36
NG_023313.1:g.157989G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000260197.12:c.4778+1G>A MANE Select	ENSP00000260197.6:n.4778+1G>A
ENST00000260197.11:c.4778+1G>A	ENSP00000260197.6:n.4778+1G>A
ENST00000525532.5:c.1610+1G>A	ENSP00000434634.1:n.1610+1G>A
ENST00000527934.1:c.623+1G>A	ENSP00000435405.1:n.623+1G>A
ENST00000532694.5:c.1316+1G>A	ENSP00000432131.1:n.1316+1G>A
ENST00000534286.5:c.1508+1G>A	ENSP00000436447.1:n.1508+1G>A
NM_003105.5:c.4778+1G>A	NP_003096.1:n.4778+1G>A
XM_011542963.1:c.4664+1G>A	XP_011541265.1:n.4664+1G>A
XM_011542964.1:c.4778+1G>A	XP_011541266.1:n.4778+1G>A
XM_011542965.1:c.3239+1G>A	XP_011541267.1:n.3239+1G>A
XM_011542966.1:c.2138+1G>A	XP_011541268.1:n.2138+1G>A
XM_011542967.1:c.1610+1G>A	XP_011541269.1:n.1610+1G>A
XM_011542963.3:c.4664+1G>A	XP_011541265.1:n.4664+1G>A
XM_011542965.3:c.3239+1G>A	XP_011541267.1:n.3239+1G>A
XM_011542967.3:c.1610+1G>A	XP_011541269.1:n.1610+1G>A
XM_017018169.2:c.4466+1G>A	XP_016873658.1:n.4466+1G>A
XM_017018170.2:c.4253+1G>A	XP_016873659.1:n.4253+1G>A
XM_017018171.1:c.4778+1G>A	XP_016873660.1:n.4778+1G>A
XM_017018172.2:c.2138+1G>A	XP_016873661.1:n.2138+1G>A
NM_003105.6:c.4778+1G>A MANE Select	NP_003096.2:n.4778+1G>A