Canonical Allele Identifier: CA6328637

Gene: SORL1

Linked Data

• dbSNP Id: rs764032259
• ExAC: 11:121393386 C / T
• gnomAD v2: 11-121393386-C-T
• gnomAD v4: 11-121522677-C-T
• MyVariant Identifiers: chr11:g.121393386C>T (hg19) ; chr11:g.121522677C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121522677C>T , CM000673.2:g.121522677C>T	GRCh38
NC_000011.9:g.121393386C>T , CM000673.1:g.121393386C>T	GRCh37
NC_000011.8:g.120898596C>T	NCBI36
NG_023313.1:g.75426C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260197.12:c.1496C>T MANE Select	ENSP00000260197.6:p.Ser499Leu
ENST00000260197.11:c.1496C>T	ENSP00000260197.6:p.Ser499Leu
ENST00000532451.1:n.1448C>T
NM_003105.5:c.1496C>T	NP_003096.1:p.Ser499Leu
XM_011542963.1:c.1496C>T	XP_011541265.1:p.Ser499Leu
XM_011542964.1:c.1496C>T	XP_011541266.1:p.Ser499Leu
XM_011542965.1:c.-127C>T	XP_011541267.1:n.-127C>T
XM_011542963.3:c.1496C>T	XP_011541265.1:p.Ser499Leu
XM_011542965.3:c.-127C>T	XP_011541267.1:n.-127C>T
XM_017018169.2:c.1184C>T	XP_016873658.1:p.Ser395Leu
XM_017018170.2:c.971C>T	XP_016873659.1:p.Ser324Leu
XM_017018171.1:c.1496C>T	XP_016873660.1:p.Ser499Leu
NM_003105.6:c.1496C>T MANE Select	NP_003096.2:p.Ser499Leu