Canonical Allele Identifier: CA477218966

Gene: SORL1

Linked Data

• MyVariant Identifiers: chr11:g.121429480C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121558771C>T , CM000673.2:g.121558771C>T	GRCh38
NC_000011.9:g.121429480C>T , CM000673.1:g.121429480C>T	GRCh37
NC_000011.8:g.120934690C>T	NCBI36
NG_023313.1:g.111520C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260197.12:c.2844C>T MANE Select	ENSP00000260197.6:p.Phe948=
ENST00000260197.11:c.2844C>T	ENSP00000260197.6:p.Phe948=
ENST00000524873.1:n.572C>T
ENST00000529445.1:n.550C>T
NM_003105.5:c.2844C>T	NP_003096.1:p.Phe948=
XM_011542963.1:c.2844C>T	XP_011541265.1:p.Phe948=
XM_011542964.1:c.2844C>T	XP_011541266.1:p.Phe948=
XM_011542965.1:c.1305C>T	XP_011541267.1:p.Phe435=
XM_011542966.1:c.204C>T	XP_011541268.1:p.Phe68=
XM_011542963.3:c.2844C>T	XP_011541265.1:p.Phe948=
XM_011542965.3:c.1305C>T	XP_011541267.1:p.Phe435=
XM_017018169.2:c.2532C>T	XP_016873658.1:p.Phe844=
XM_017018170.2:c.2319C>T	XP_016873659.1:p.Phe773=
XM_017018171.1:c.2844C>T	XP_016873660.1:p.Phe948=
XM_017018172.2:c.204C>T	XP_016873661.1:p.Phe68=
NM_003105.6:c.2844C>T MANE Select	NP_003096.2:p.Phe948=