Canonical Allele Identifier: CA477218632
Gene: SORL1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.121424699C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.121553990C>T , CM000673.2:g.121553990C>T GRCh38
NC_000011.9:g.121424699C>T , CM000673.1:g.121424699C>T GRCh37
NC_000011.8:g.120929909C>T NCBI36
NG_023313.1:g.106739C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000260197.12:c.2320C>T MANE Select ENSP00000260197.6:p.Leu774=
ENST00000260197.11:c.2320C>T ENSP00000260197.6:p.Leu774=
NM_003105.5:c.2320C>T NP_003096.1:p.Leu774=
XM_011542963.1:c.2320C>T XP_011541265.1:p.Leu774=
XM_011542964.1:c.2320C>T XP_011541266.1:p.Leu774=
XM_011542965.1:c.781C>T XP_011541267.1:p.Leu261=
XM_011542963.3:c.2320C>T XP_011541265.1:p.Leu774=
XM_011542965.3:c.781C>T XP_011541267.1:p.Leu261=
XM_017018169.2:c.2008C>T XP_016873658.1:p.Leu670=
XM_017018170.2:c.1795C>T XP_016873659.1:p.Leu599=
XM_017018171.1:c.2320C>T XP_016873660.1:p.Leu774=
XM_017018172.2:c.-229C>T XP_016873661.1:n.-229C>T
NM_003105.6:c.2320C>T MANE Select NP_003096.2:p.Leu774=