Canonical Allele Identifier: CA477218967

Gene: SORL1

Linked Data

• dbSNP Id: rs1862630991
• gnomAD v4: 11-121558774-T-C
• MyVariant Identifiers: chr11:g.121429483T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121558774T>C , CM000673.2:g.121558774T>C	GRCh38
NC_000011.9:g.121429483T>C , CM000673.1:g.121429483T>C	GRCh37
NC_000011.8:g.120934693T>C	NCBI36
NG_023313.1:g.111523T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000260197.12:c.2847T>C MANE Select	ENSP00000260197.6:p.Ser949=
ENST00000260197.11:c.2847T>C	ENSP00000260197.6:p.Ser949=
ENST00000529445.1:n.553T>C
NM_003105.5:c.2847T>C	NP_003096.1:p.Ser949=
XM_011542963.1:c.2847T>C	XP_011541265.1:p.Ser949=
XM_011542964.1:c.2847T>C	XP_011541266.1:p.Ser949=
XM_011542965.1:c.1308T>C	XP_011541267.1:p.Ser436=
XM_011542966.1:c.207T>C	XP_011541268.1:p.Ser69=
XM_011542963.3:c.2847T>C	XP_011541265.1:p.Ser949=
XM_011542965.3:c.1308T>C	XP_011541267.1:p.Ser436=
XM_017018169.2:c.2535T>C	XP_016873658.1:p.Ser845=
XM_017018170.2:c.2322T>C	XP_016873659.1:p.Ser774=
XM_017018171.1:c.2847T>C	XP_016873660.1:p.Ser949=
XM_017018172.2:c.207T>C	XP_016873661.1:p.Ser69=
NM_003105.6:c.2847T>C MANE Select	NP_003096.2:p.Ser949=