Canonical Allele Identifier: CA477221663

Gene: SORL1

Linked Data

• MyVariant Identifiers: chr11:g.121475841A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121605132A>G , CM000673.2:g.121605132A>G	GRCh38
NC_000011.9:g.121475841A>G , CM000673.1:g.121475841A>G	GRCh37
NC_000011.8:g.120981051A>G	NCBI36
NG_023313.1:g.157881A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260197.12:c.4671A>G MANE Select	ENSP00000260197.6:p.Lys1557=
ENST00000260197.11:c.4671A>G	ENSP00000260197.6:p.Lys1557=
ENST00000525532.5:c.1503A>G	ENSP00000434634.1:p.Lys501=
ENST00000527934.1:c.516A>G	ENSP00000435405.1:p.Lys172=
ENST00000532694.5:c.1209A>G	ENSP00000432131.1:p.Lys403=
ENST00000534286.5:c.1401A>G	ENSP00000436447.1:p.Lys467=
NM_003105.5:c.4671A>G	NP_003096.1:p.Lys1557=
XM_011542963.1:c.4557A>G	XP_011541265.1:p.Lys1519=
XM_011542964.1:c.4671A>G	XP_011541266.1:p.Lys1557=
XM_011542965.1:c.3132A>G	XP_011541267.1:p.Lys1044=
XM_011542966.1:c.2031A>G	XP_011541268.1:p.Lys677=
XM_011542967.1:c.1503A>G	XP_011541269.1:p.Lys501=
XM_011542963.3:c.4557A>G	XP_011541265.1:p.Lys1519=
XM_011542965.3:c.3132A>G	XP_011541267.1:p.Lys1044=
XM_011542967.3:c.1503A>G	XP_011541269.1:p.Lys501=
XM_017018169.2:c.4359A>G	XP_016873658.1:p.Lys1453=
XM_017018170.2:c.4146A>G	XP_016873659.1:p.Lys1382=
XM_017018171.1:c.4671A>G	XP_016873660.1:p.Lys1557=
XM_017018172.2:c.2031A>G	XP_016873661.1:p.Lys677=
NM_003105.6:c.4671A>G MANE Select	NP_003096.2:p.Lys1557=