Canonical Allele Identifier: CA383025253

Gene: SORL1

Linked Data

• COSMIC: COSM6067816
• MyVariant Identifiers: chr11:g.121393650C>G (hg19) ; chr11:g.121522941C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121522941C>G , CM000673.2:g.121522941C>G	GRCh38
NC_000011.9:g.121393650C>G , CM000673.1:g.121393650C>G	GRCh37
NC_000011.8:g.120898860C>G	NCBI36
NG_023313.1:g.75690C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260197.12:c.1548C>G MANE Select	ENSP00000260197.6:p.Ser516Arg
ENST00000260197.11:c.1548C>G	ENSP00000260197.6:p.Ser516Arg
ENST00000532451.1:n.1500C>G
NM_003105.5:c.1548C>G	NP_003096.1:p.Ser516Arg
XM_011542963.1:c.1548C>G	XP_011541265.1:p.Ser516Arg
XM_011542964.1:c.1548C>G	XP_011541266.1:p.Ser516Arg
XM_011542965.1:c.-75C>G	XP_011541267.1:n.-75C>G
XM_011542963.3:c.1548C>G	XP_011541265.1:p.Ser516Arg
XM_011542965.3:c.-75C>G	XP_011541267.1:n.-75C>G
XM_017018169.2:c.1236C>G	XP_016873658.1:p.Ser412Arg
XM_017018170.2:c.1023C>G	XP_016873659.1:p.Ser341Arg
XM_017018171.1:c.1548C>G	XP_016873660.1:p.Ser516Arg
NM_003105.6:c.1548C>G MANE Select	NP_003096.2:p.Ser516Arg