Canonical Allele Identifier: CA383027325

Gene: SORL1

Linked Data

• gnomAD v4: 11-121586257-A-G
• MyVariant Identifiers: chr11:g.121456966A>G (hg19) ; chr11:g.121586257A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121586257A>G , CM000673.2:g.121586257A>G	GRCh38
NC_000011.9:g.121456966A>G , CM000673.1:g.121456966A>G	GRCh37
NC_000011.8:g.120962176A>G	NCBI36
NG_023313.1:g.139006A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000260197.12:c.3742A>G MANE Select	ENSP00000260197.6:p.Thr1248Ala
ENST00000260197.11:c.3742A>G	ENSP00000260197.6:p.Thr1248Ala
ENST00000525532.5:c.574A>G	ENSP00000434634.1:p.Thr192Ala
ENST00000532694.5:c.280A>G	ENSP00000432131.1:p.Thr94Ala
ENST00000534286.5:c.472A>G	ENSP00000436447.1:p.Thr158Ala
NM_003105.5:c.3742A>G	NP_003096.1:p.Thr1248Ala
XM_011542963.1:c.3628A>G	XP_011541265.1:p.Thr1210Ala
XM_011542964.1:c.3742A>G	XP_011541266.1:p.Thr1248Ala
XM_011542965.1:c.2203A>G	XP_011541267.1:p.Thr735Ala
XM_011542966.1:c.1102A>G	XP_011541268.1:p.Thr368Ala
XM_011542967.1:c.574A>G	XP_011541269.1:p.Thr192Ala
XM_011542963.3:c.3628A>G	XP_011541265.1:p.Thr1210Ala
XM_011542965.3:c.2203A>G	XP_011541267.1:p.Thr735Ala
XM_011542967.3:c.574A>G	XP_011541269.1:p.Thr192Ala
XM_017018169.2:c.3430A>G	XP_016873658.1:p.Thr1144Ala
XM_017018170.2:c.3217A>G	XP_016873659.1:p.Thr1073Ala
XM_017018171.1:c.3742A>G	XP_016873660.1:p.Thr1248Ala
XM_017018172.2:c.1102A>G	XP_016873661.1:p.Thr368Ala
NM_003105.6:c.3742A>G MANE Select	NP_003096.2:p.Thr1248Ala