Canonical Allele Identifier: CA383036178

Gene: SORL1

Linked Data

• MyVariant Identifiers: chr11:g.121429533T>G (hg19) ; chr11:g.121558824T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121558824T>G , CM000673.2:g.121558824T>G	GRCh38
NC_000011.9:g.121429533T>G , CM000673.1:g.121429533T>G	GRCh37
NC_000011.8:g.120934743T>G	NCBI36
NG_023313.1:g.111573T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260197.12:c.2897T>G MANE Select	ENSP00000260197.6:p.Ile966Ser
ENST00000260197.11:c.2897T>G	ENSP00000260197.6:p.Ile966Ser
ENST00000529445.1:n.603T>G
NM_003105.5:c.2897T>G	NP_003096.1:p.Ile966Ser
XM_011542963.1:c.2897T>G	XP_011541265.1:p.Ile966Ser
XM_011542964.1:c.2897T>G	XP_011541266.1:p.Ile966Ser
XM_011542965.1:c.1358T>G	XP_011541267.1:p.Ile453Ser
XM_011542966.1:c.257T>G	XP_011541268.1:p.Ile86Ser
XM_011542963.3:c.2897T>G	XP_011541265.1:p.Ile966Ser
XM_011542965.3:c.1358T>G	XP_011541267.1:p.Ile453Ser
XM_017018169.2:c.2585T>G	XP_016873658.1:p.Ile862Ser
XM_017018170.2:c.2372T>G	XP_016873659.1:p.Ile791Ser
XM_017018171.1:c.2897T>G	XP_016873660.1:p.Ile966Ser
XM_017018172.2:c.257T>G	XP_016873661.1:p.Ile86Ser
NM_003105.6:c.2897T>G MANE Select	NP_003096.2:p.Ile966Ser