Canonical Allele Identifier: CA383038913

Gene: SORL1

Linked Data

• gnomAD v4: 11-121605229-G-A
• MyVariant Identifiers: chr11:g.121475938G>A (hg19) ; chr11:g.121605229G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121605229G>A , CM000673.2:g.121605229G>A	GRCh38
NC_000011.9:g.121475938G>A , CM000673.1:g.121475938G>A	GRCh37
NC_000011.8:g.120981148G>A	NCBI36
NG_023313.1:g.157978G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260197.12:c.4768G>A MANE Select	ENSP00000260197.6:p.Val1590Ile
ENST00000260197.11:c.4768G>A	ENSP00000260197.6:p.Val1590Ile
ENST00000525532.5:c.1600G>A	ENSP00000434634.1:p.Val534Ile
ENST00000527934.1:c.613G>A	ENSP00000435405.1:p.Val205Ile
ENST00000532694.5:c.1306G>A	ENSP00000432131.1:p.Val436Ile
ENST00000534286.5:c.1498G>A	ENSP00000436447.1:p.Val500Ile
NM_003105.5:c.4768G>A	NP_003096.1:p.Val1590Ile
XM_011542963.1:c.4654G>A	XP_011541265.1:p.Val1552Ile
XM_011542964.1:c.4768G>A	XP_011541266.1:p.Val1590Ile
XM_011542965.1:c.3229G>A	XP_011541267.1:p.Val1077Ile
XM_011542966.1:c.2128G>A	XP_011541268.1:p.Val710Ile
XM_011542967.1:c.1600G>A	XP_011541269.1:p.Val534Ile
XM_011542963.3:c.4654G>A	XP_011541265.1:p.Val1552Ile
XM_011542965.3:c.3229G>A	XP_011541267.1:p.Val1077Ile
XM_011542967.3:c.1600G>A	XP_011541269.1:p.Val534Ile
XM_017018169.2:c.4456G>A	XP_016873658.1:p.Val1486Ile
XM_017018170.2:c.4243G>A	XP_016873659.1:p.Val1415Ile
XM_017018171.1:c.4768G>A	XP_016873660.1:p.Val1590Ile
XM_017018172.2:c.2128G>A	XP_016873661.1:p.Val710Ile
NM_003105.6:c.4768G>A MANE Select	NP_003096.2:p.Val1590Ile