Canonical Allele Identifier: CA383027329

Gene: SORL1

Linked Data

• MyVariant Identifiers: chr11:g.121456967C>G (hg19) ; chr11:g.121586258C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121586258C>G , CM000673.2:g.121586258C>G	GRCh38
NC_000011.9:g.121456967C>G , CM000673.1:g.121456967C>G	GRCh37
NC_000011.8:g.120962177C>G	NCBI36
NG_023313.1:g.139007C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000260197.12:c.3743C>G MANE Select	ENSP00000260197.6:p.Thr1248Ser
ENST00000260197.11:c.3743C>G	ENSP00000260197.6:p.Thr1248Ser
ENST00000525532.5:c.575C>G	ENSP00000434634.1:p.Thr192Ser
ENST00000532694.5:c.281C>G	ENSP00000432131.1:p.Thr94Ser
ENST00000534286.5:c.473C>G	ENSP00000436447.1:p.Thr158Ser
NM_003105.5:c.3743C>G	NP_003096.1:p.Thr1248Ser
XM_011542963.1:c.3629C>G	XP_011541265.1:p.Thr1210Ser
XM_011542964.1:c.3743C>G	XP_011541266.1:p.Thr1248Ser
XM_011542965.1:c.2204C>G	XP_011541267.1:p.Thr735Ser
XM_011542966.1:c.1103C>G	XP_011541268.1:p.Thr368Ser
XM_011542967.1:c.575C>G	XP_011541269.1:p.Thr192Ser
XM_011542963.3:c.3629C>G	XP_011541265.1:p.Thr1210Ser
XM_011542965.3:c.2204C>G	XP_011541267.1:p.Thr735Ser
XM_011542967.3:c.575C>G	XP_011541269.1:p.Thr192Ser
XM_017018169.2:c.3431C>G	XP_016873658.1:p.Thr1144Ser
XM_017018170.2:c.3218C>G	XP_016873659.1:p.Thr1073Ser
XM_017018171.1:c.3743C>G	XP_016873660.1:p.Thr1248Ser
XM_017018172.2:c.1103C>G	XP_016873661.1:p.Thr368Ser
NM_003105.6:c.3743C>G MANE Select	NP_003096.2:p.Thr1248Ser