Canonical Allele Identifier: CA477221762

Gene: SORL1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121605213T>C , CM000673.2:g.121605213T>C	GRCh38
NC_000011.9:g.121475922T>C , CM000673.1:g.121475922T>C	GRCh37
NC_000011.8:g.120981132T>C	NCBI36
NG_023313.1:g.157962T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260197.12:c.4752T>C MANE Select	ENSP00000260197.6:p.Ala1584=
ENST00000260197.11:c.4752T>C	ENSP00000260197.6:p.Ala1584=
ENST00000525532.5:c.1584T>C	ENSP00000434634.1:p.Ala528=
ENST00000527934.1:c.597T>C	ENSP00000435405.1:p.Ala199=
ENST00000532694.5:c.1290T>C	ENSP00000432131.1:p.Ala430=
ENST00000534286.5:c.1482T>C	ENSP00000436447.1:p.Ala494=
NM_003105.5:c.4752T>C	NP_003096.1:p.Ala1584=
XM_011542963.1:c.4638T>C	XP_011541265.1:p.Ala1546=
XM_011542964.1:c.4752T>C	XP_011541266.1:p.Ala1584=
XM_011542965.1:c.3213T>C	XP_011541267.1:p.Ala1071=
XM_011542966.1:c.2112T>C	XP_011541268.1:p.Ala704=
XM_011542967.1:c.1584T>C	XP_011541269.1:p.Ala528=
XM_011542963.3:c.4638T>C	XP_011541265.1:p.Ala1546=
XM_011542965.3:c.3213T>C	XP_011541267.1:p.Ala1071=
XM_011542967.3:c.1584T>C	XP_011541269.1:p.Ala528=
XM_017018169.2:c.4440T>C	XP_016873658.1:p.Ala1480=
XM_017018170.2:c.4227T>C	XP_016873659.1:p.Ala1409=
XM_017018171.1:c.4752T>C	XP_016873660.1:p.Ala1584=
XM_017018172.2:c.2112T>C	XP_016873661.1:p.Ala704=
NM_003105.6:c.4752T>C MANE Select	NP_003096.2:p.Ala1584=