Canonical Allele Identifier: CA383036102

Gene: SORL1

Linked Data

• gnomAD v4: 11-121558788-C-T
• MyVariant Identifiers: chr11:g.121429497C>T (hg19) ; chr11:g.121558788C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121558788C>T , CM000673.2:g.121558788C>T	GRCh38
NC_000011.9:g.121429497C>T , CM000673.1:g.121429497C>T	GRCh37
NC_000011.8:g.120934707C>T	NCBI36
NG_023313.1:g.111537C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260197.12:c.2861C>T MANE Select	ENSP00000260197.6:p.Ser954Phe
ENST00000260197.11:c.2861C>T	ENSP00000260197.6:p.Ser954Phe
ENST00000529445.1:n.567C>T
NM_003105.5:c.2861C>T	NP_003096.1:p.Ser954Phe
XM_011542963.1:c.2861C>T	XP_011541265.1:p.Ser954Phe
XM_011542964.1:c.2861C>T	XP_011541266.1:p.Ser954Phe
XM_011542965.1:c.1322C>T	XP_011541267.1:p.Ser441Phe
XM_011542966.1:c.221C>T	XP_011541268.1:p.Ser74Phe
XM_011542963.3:c.2861C>T	XP_011541265.1:p.Ser954Phe
XM_011542965.3:c.1322C>T	XP_011541267.1:p.Ser441Phe
XM_017018169.2:c.2549C>T	XP_016873658.1:p.Ser850Phe
XM_017018170.2:c.2336C>T	XP_016873659.1:p.Ser779Phe
XM_017018171.1:c.2861C>T	XP_016873660.1:p.Ser954Phe
XM_017018172.2:c.221C>T	XP_016873661.1:p.Ser74Phe
NM_003105.6:c.2861C>T MANE Select	NP_003096.2:p.Ser954Phe