Canonical Allele Identifier: CA383027351

Gene: SORL1

Linked Data

• MyVariant Identifiers: chr11:g.121456971C>G (hg19) ; chr11:g.121586262C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121586262C>G , CM000673.2:g.121586262C>G	GRCh38
NC_000011.9:g.121456971C>G , CM000673.1:g.121456971C>G	GRCh37
NC_000011.8:g.120962181C>G	NCBI36
NG_023313.1:g.139011C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000260197.12:c.3747C>G MANE Select	ENSP00000260197.6:p.Cys1249Trp
ENST00000260197.11:c.3747C>G	ENSP00000260197.6:p.Cys1249Trp
ENST00000525532.5:c.579C>G	ENSP00000434634.1:p.Cys193Trp
ENST00000532694.5:c.285C>G	ENSP00000432131.1:p.Cys95Trp
ENST00000534286.5:c.477C>G	ENSP00000436447.1:p.Cys159Trp
NM_003105.5:c.3747C>G	NP_003096.1:p.Cys1249Trp
XM_011542963.1:c.3633C>G	XP_011541265.1:p.Cys1211Trp
XM_011542964.1:c.3747C>G	XP_011541266.1:p.Cys1249Trp
XM_011542965.1:c.2208C>G	XP_011541267.1:p.Cys736Trp
XM_011542966.1:c.1107C>G	XP_011541268.1:p.Cys369Trp
XM_011542967.1:c.579C>G	XP_011541269.1:p.Cys193Trp
XM_011542963.3:c.3633C>G	XP_011541265.1:p.Cys1211Trp
XM_011542965.3:c.2208C>G	XP_011541267.1:p.Cys736Trp
XM_011542967.3:c.579C>G	XP_011541269.1:p.Cys193Trp
XM_017018169.2:c.3435C>G	XP_016873658.1:p.Cys1145Trp
XM_017018170.2:c.3222C>G	XP_016873659.1:p.Cys1074Trp
XM_017018171.1:c.3747C>G	XP_016873660.1:p.Cys1249Trp
XM_017018172.2:c.1107C>G	XP_016873661.1:p.Cys369Trp
NM_003105.6:c.3747C>G MANE Select	NP_003096.2:p.Cys1249Trp