Canonical Allele Identifier: CA383027344

Gene: SORL1

Linked Data

• MyVariant Identifiers: chr11:g.121456970G>T (hg19) ; chr11:g.121586261G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121586261G>T , CM000673.2:g.121586261G>T	GRCh38
NC_000011.9:g.121456970G>T , CM000673.1:g.121456970G>T	GRCh37
NC_000011.8:g.120962180G>T	NCBI36
NG_023313.1:g.139010G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000260197.12:c.3746G>T MANE Select	ENSP00000260197.6:p.Cys1249Phe
ENST00000260197.11:c.3746G>T	ENSP00000260197.6:p.Cys1249Phe
ENST00000525532.5:c.578G>T	ENSP00000434634.1:p.Cys193Phe
ENST00000532694.5:c.284G>T	ENSP00000432131.1:p.Cys95Phe
ENST00000534286.5:c.476G>T	ENSP00000436447.1:p.Cys159Phe
NM_003105.5:c.3746G>T	NP_003096.1:p.Cys1249Phe
XM_011542963.1:c.3632G>T	XP_011541265.1:p.Cys1211Phe
XM_011542964.1:c.3746G>T	XP_011541266.1:p.Cys1249Phe
XM_011542965.1:c.2207G>T	XP_011541267.1:p.Cys736Phe
XM_011542966.1:c.1106G>T	XP_011541268.1:p.Cys369Phe
XM_011542967.1:c.578G>T	XP_011541269.1:p.Cys193Phe
XM_011542963.3:c.3632G>T	XP_011541265.1:p.Cys1211Phe
XM_011542965.3:c.2207G>T	XP_011541267.1:p.Cys736Phe
XM_011542967.3:c.578G>T	XP_011541269.1:p.Cys193Phe
XM_017018169.2:c.3434G>T	XP_016873658.1:p.Cys1145Phe
XM_017018170.2:c.3221G>T	XP_016873659.1:p.Cys1074Phe
XM_017018171.1:c.3746G>T	XP_016873660.1:p.Cys1249Phe
XM_017018172.2:c.1106G>T	XP_016873661.1:p.Cys369Phe
NM_003105.6:c.3746G>T MANE Select	NP_003096.2:p.Cys1249Phe