Canonical Allele Identifier: CA383035809

Gene: SORL1

Linked Data

• MyVariant Identifiers: chr11:g.121429367G>C (hg19) ; chr11:g.121558658G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121558658G>C , CM000673.2:g.121558658G>C	GRCh38
NC_000011.9:g.121429367G>C , CM000673.1:g.121429367G>C	GRCh37
NC_000011.8:g.120934577G>C	NCBI36
NG_023313.1:g.111407G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260197.12:c.2731G>C MANE Select	ENSP00000260197.6:p.Ala911Pro
ENST00000260197.11:c.2731G>C	ENSP00000260197.6:p.Ala911Pro
ENST00000524873.1:n.459G>C
ENST00000529445.1:n.437G>C
NM_003105.5:c.2731G>C	NP_003096.1:p.Ala911Pro
XM_011542963.1:c.2731G>C	XP_011541265.1:p.Ala911Pro
XM_011542964.1:c.2731G>C	XP_011541266.1:p.Ala911Pro
XM_011542965.1:c.1192G>C	XP_011541267.1:p.Ala398Pro
XM_011542966.1:c.91G>C	XP_011541268.1:p.Ala31Pro
XM_011542963.3:c.2731G>C	XP_011541265.1:p.Ala911Pro
XM_011542965.3:c.1192G>C	XP_011541267.1:p.Ala398Pro
XM_017018169.2:c.2419G>C	XP_016873658.1:p.Ala807Pro
XM_017018170.2:c.2206G>C	XP_016873659.1:p.Ala736Pro
XM_017018171.1:c.2731G>C	XP_016873660.1:p.Ala911Pro
XM_017018172.2:c.91G>C	XP_016873661.1:p.Ala31Pro
NM_003105.6:c.2731G>C MANE Select	NP_003096.2:p.Ala911Pro