Canonical Allele Identifier: CA6329076

Gene: SORL1

Linked Data

• dbSNP Id: rs759031383
• ExAC: 11:121429519 G / T
• gnomAD v2: 11-121429519-G-T
• gnomAD v4: 11-121558810-G-T
• MyVariant Identifiers: chr11:g.121429519G>T (hg19) ; chr11:g.121558810G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121558810G>T , CM000673.2:g.121558810G>T	GRCh38
NC_000011.9:g.121429519G>T , CM000673.1:g.121429519G>T	GRCh37
NC_000011.8:g.120934729G>T	NCBI36
NG_023313.1:g.111559G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260197.12:c.2883G>T MANE Select	ENSP00000260197.6:p.Pro961=
ENST00000260197.11:c.2883G>T	ENSP00000260197.6:p.Pro961=
ENST00000529445.1:n.589G>T
NM_003105.5:c.2883G>T	NP_003096.1:p.Pro961=
XM_011542963.1:c.2883G>T	XP_011541265.1:p.Pro961=
XM_011542964.1:c.2883G>T	XP_011541266.1:p.Pro961=
XM_011542965.1:c.1344G>T	XP_011541267.1:p.Pro448=
XM_011542966.1:c.243G>T	XP_011541268.1:p.Pro81=
XM_011542963.3:c.2883G>T	XP_011541265.1:p.Pro961=
XM_011542965.3:c.1344G>T	XP_011541267.1:p.Pro448=
XM_017018169.2:c.2571G>T	XP_016873658.1:p.Pro857=
XM_017018170.2:c.2358G>T	XP_016873659.1:p.Pro786=
XM_017018171.1:c.2883G>T	XP_016873660.1:p.Pro961=
XM_017018172.2:c.243G>T	XP_016873661.1:p.Pro81=
NM_003105.6:c.2883G>T MANE Select	NP_003096.2:p.Pro961=