Canonical Allele Identifier: CA383038936

Gene: SORL1

Linked Data

• MyVariant Identifiers: chr11:g.121475947A>T (hg19) ; chr11:g.121605238A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121605238A>T , CM000673.2:g.121605238A>T	GRCh38
NC_000011.9:g.121475947A>T , CM000673.1:g.121475947A>T	GRCh37
NC_000011.8:g.120981157A>T	NCBI36
NG_023313.1:g.157987A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260197.12:c.4777A>T MANE Select	ENSP00000260197.6:p.Arg1593Trp
ENST00000260197.11:c.4777A>T	ENSP00000260197.6:p.Arg1593Trp
ENST00000525532.5:c.1609A>T	ENSP00000434634.1:p.Arg537Trp
ENST00000527934.1:c.622A>T	ENSP00000435405.1:p.Arg208Trp
ENST00000532694.5:c.1315A>T	ENSP00000432131.1:p.Arg439Trp
ENST00000534286.5:c.1507A>T	ENSP00000436447.1:p.Arg503Trp
NM_003105.5:c.4777A>T	NP_003096.1:p.Arg1593Trp
XM_011542963.1:c.4663A>T	XP_011541265.1:p.Arg1555Trp
XM_011542964.1:c.4777A>T	XP_011541266.1:p.Arg1593Trp
XM_011542965.1:c.3238A>T	XP_011541267.1:p.Arg1080Trp
XM_011542966.1:c.2137A>T	XP_011541268.1:p.Arg713Trp
XM_011542967.1:c.1609A>T	XP_011541269.1:p.Arg537Trp
XM_011542963.3:c.4663A>T	XP_011541265.1:p.Arg1555Trp
XM_011542965.3:c.3238A>T	XP_011541267.1:p.Arg1080Trp
XM_011542967.3:c.1609A>T	XP_011541269.1:p.Arg537Trp
XM_017018169.2:c.4465A>T	XP_016873658.1:p.Arg1489Trp
XM_017018170.2:c.4252A>T	XP_016873659.1:p.Arg1418Trp
XM_017018171.1:c.4777A>T	XP_016873660.1:p.Arg1593Trp
XM_017018172.2:c.2137A>T	XP_016873661.1:p.Arg713Trp
NM_003105.6:c.4777A>T MANE Select	NP_003096.2:p.Arg1593Trp