Canonical Allele Identifier: CA477218051

Gene: SORL1

Linked Data

• gnomAD v4: 11-121522597-C-T
• MyVariant Identifiers: chr11:g.121393306C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121522597C>T , CM000673.2:g.121522597C>T	GRCh38
NC_000011.9:g.121393306C>T , CM000673.1:g.121393306C>T	GRCh37
NC_000011.8:g.120898516C>T	NCBI36
NG_023313.1:g.75346C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260197.12:c.1416C>T MANE Select	ENSP00000260197.6:p.Gly472=
ENST00000260197.11:c.1416C>T	ENSP00000260197.6:p.Gly472=
ENST00000532451.1:n.1368C>T
NM_003105.5:c.1416C>T	NP_003096.1:p.Gly472=
XM_011542963.1:c.1416C>T	XP_011541265.1:p.Gly472=
XM_011542964.1:c.1416C>T	XP_011541266.1:p.Gly472=
XM_011542965.1:c.-207C>T	XP_011541267.1:n.-207C>T
XM_011542963.3:c.1416C>T	XP_011541265.1:p.Gly472=
XM_011542965.3:c.-207C>T	XP_011541267.1:n.-207C>T
XM_017018169.2:c.1104C>T	XP_016873658.1:p.Gly368=
XM_017018170.2:c.891C>T	XP_016873659.1:p.Gly297=
XM_017018171.1:c.1416C>T	XP_016873660.1:p.Gly472=
NM_003105.6:c.1416C>T MANE Select	NP_003096.2:p.Gly472=