Canonical Allele Identifier: CA477218983

Gene: SORL1

Linked Data

• gnomAD v4: 11-121558796-C-T
• MyVariant Identifiers: chr11:g.121429505C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121558796C>T , CM000673.2:g.121558796C>T	GRCh38
NC_000011.9:g.121429505C>T , CM000673.1:g.121429505C>T	GRCh37
NC_000011.8:g.120934715C>T	NCBI36
NG_023313.1:g.111545C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260197.12:c.2869C>T MANE Select	ENSP00000260197.6:p.Leu957=
ENST00000260197.11:c.2869C>T	ENSP00000260197.6:p.Leu957=
ENST00000529445.1:n.575C>T
NM_003105.5:c.2869C>T	NP_003096.1:p.Leu957=
XM_011542963.1:c.2869C>T	XP_011541265.1:p.Leu957=
XM_011542964.1:c.2869C>T	XP_011541266.1:p.Leu957=
XM_011542965.1:c.1330C>T	XP_011541267.1:p.Leu444=
XM_011542966.1:c.229C>T	XP_011541268.1:p.Leu77=
XM_011542963.3:c.2869C>T	XP_011541265.1:p.Leu957=
XM_011542965.3:c.1330C>T	XP_011541267.1:p.Leu444=
XM_017018169.2:c.2557C>T	XP_016873658.1:p.Leu853=
XM_017018170.2:c.2344C>T	XP_016873659.1:p.Leu782=
XM_017018171.1:c.2869C>T	XP_016873660.1:p.Leu957=
XM_017018172.2:c.229C>T	XP_016873661.1:p.Leu77=
NM_003105.6:c.2869C>T MANE Select	NP_003096.2:p.Leu957=