Canonical Allele Identifier: CA383038417

Gene: SORL1

Linked Data

• gnomAD v4: 11-121605133-G-T
• MyVariant Identifiers: chr11:g.121475842G>T (hg19) ; chr11:g.121605133G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121605133G>T , CM000673.2:g.121605133G>T	GRCh38
NC_000011.9:g.121475842G>T , CM000673.1:g.121475842G>T	GRCh37
NC_000011.8:g.120981052G>T	NCBI36
NG_023313.1:g.157882G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260197.12:c.4672G>T MANE Select	ENSP00000260197.6:p.Val1558Leu
ENST00000260197.11:c.4672G>T	ENSP00000260197.6:p.Val1558Leu
ENST00000525532.5:c.1504G>T	ENSP00000434634.1:p.Val502Leu
ENST00000527934.1:c.517G>T	ENSP00000435405.1:p.Val173Leu
ENST00000532694.5:c.1210G>T	ENSP00000432131.1:p.Val404Leu
ENST00000534286.5:c.1402G>T	ENSP00000436447.1:p.Val468Leu
NM_003105.5:c.4672G>T	NP_003096.1:p.Val1558Leu
XM_011542963.1:c.4558G>T	XP_011541265.1:p.Val1520Leu
XM_011542964.1:c.4672G>T	XP_011541266.1:p.Val1558Leu
XM_011542965.1:c.3133G>T	XP_011541267.1:p.Val1045Leu
XM_011542966.1:c.2032G>T	XP_011541268.1:p.Val678Leu
XM_011542967.1:c.1504G>T	XP_011541269.1:p.Val502Leu
XM_011542963.3:c.4558G>T	XP_011541265.1:p.Val1520Leu
XM_011542965.3:c.3133G>T	XP_011541267.1:p.Val1045Leu
XM_011542967.3:c.1504G>T	XP_011541269.1:p.Val502Leu
XM_017018169.2:c.4360G>T	XP_016873658.1:p.Val1454Leu
XM_017018170.2:c.4147G>T	XP_016873659.1:p.Val1383Leu
XM_017018171.1:c.4672G>T	XP_016873660.1:p.Val1558Leu
XM_017018172.2:c.2032G>T	XP_016873661.1:p.Val678Leu
NM_003105.6:c.4672G>T MANE Select	NP_003096.2:p.Val1558Leu