Canonical Allele Identifier: CA477218149

Gene: SORL1

Linked Data

• dbSNP Id: rs1331825126
• gnomAD v2: 11-121393656-A-C
• gnomAD v4: 11-121522947-A-C
• MyVariant Identifiers: chr11:g.121393656A>C (hg19) ; chr11:g.121522947A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121522947A>C , CM000673.2:g.121522947A>C	GRCh38
NC_000011.9:g.121393656A>C , CM000673.1:g.121393656A>C	GRCh37
NC_000011.8:g.120898866A>C	NCBI36
NG_023313.1:g.75696A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260197.12:c.1554A>C MANE Select	ENSP00000260197.6:p.Thr518=
ENST00000260197.11:c.1554A>C	ENSP00000260197.6:p.Thr518=
ENST00000532451.1:n.1506A>C
NM_003105.5:c.1554A>C	NP_003096.1:p.Thr518=
XM_011542963.1:c.1554A>C	XP_011541265.1:p.Thr518=
XM_011542964.1:c.1554A>C	XP_011541266.1:p.Thr518=
XM_011542965.1:c.-69A>C	XP_011541267.1:n.-69A>C
XM_011542963.3:c.1554A>C	XP_011541265.1:p.Thr518=
XM_011542965.3:c.-69A>C	XP_011541267.1:n.-69A>C
XM_017018169.2:c.1242A>C	XP_016873658.1:p.Thr414=
XM_017018170.2:c.1029A>C	XP_016873659.1:p.Thr343=
XM_017018171.1:c.1554A>C	XP_016873660.1:p.Thr518=
NM_003105.6:c.1554A>C MANE Select	NP_003096.2:p.Thr518=