Canonical Allele Identifier: CA410520130
Gene: LSS HGNC NCBI
MyVariant.info:
Revel Score:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.46215720T>C , CM000683.2:g.46215720T>C GRCh38
NC_000021.8:g.47635634T>C , CM000683.1:g.47635634T>C GRCh37
NC_000021.7:g.46460062T>C NCBI36
NG_011510.1:g.18105A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000397728.8:c.857A>G MANE Select ENSP00000380837.2:p.Tyr286Cys
ENST00000356396.8:c.857A>G ENSP00000348762.3:p.Tyr286Cys
ENST00000397728.7:c.857A>G ENSP00000380837.2:p.Tyr286Cys
ENST00000457828.6:c.617A>G ENSP00000409191.2:p.Tyr206Cys
ENST00000464357.1:n.1006A>G
ENST00000522411.5:c.824A>G ENSP00000429133.1:p.Tyr275Cys
NM_001001438.2:c.857A>G NP_001001438.1:p.Tyr286Cys
NM_001145436.1:c.824A>G NP_001138908.1:p.Tyr275Cys
NM_001145437.1:c.617A>G NP_001138909.1:p.Tyr206Cys
NM_002340.5:c.857A>G NP_002331.3:p.Tyr286Cys
XM_006724004.2:c.857A>G XP_006724067.1:p.Tyr286Cys
XM_011529564.1:c.857A>G XP_011527866.1:p.Tyr286Cys
XM_011529565.1:c.857A>G XP_011527867.1:p.Tyr286Cys
XM_011529566.1:c.824A>G XP_011527868.1:p.Tyr275Cys
XM_011529567.1:c.857A>G XP_011527869.1:p.Tyr286Cys
XR_937491.1:n.932A>G
XM_006724004.4:c.857A>G XP_006724067.1:p.Tyr286Cys
XM_011529564.3:c.857A>G XP_011527866.1:p.Tyr286Cys
XM_011529565.2:c.857A>G XP_011527867.1:p.Tyr286Cys
XM_011529566.3:c.824A>G XP_011527868.1:p.Tyr275Cys
XM_011529567.3:c.857A>G XP_011527869.1:p.Tyr286Cys
XM_017028346.2:c.857A>G XP_016883835.1:p.Tyr286Cys
XM_017028347.1:c.824A>G XP_016883836.1:p.Tyr275Cys
XM_017028348.2:c.857A>G XP_016883837.1:p.Tyr286Cys
XM_024452078.1:c.140A>G XP_024307846.1:p.Tyr47Cys
XM_024452079.1:c.140A>G XP_024307847.1:p.Tyr47Cys
XR_937491.3:n.900A>G
NM_002340.6:c.857A>G MANE Select NP_002331.3:p.Tyr286Cys
NM_001145436.2:c.824A>G NP_001138908.1:p.Tyr275Cys
NM_001001438.3:c.857A>G NP_001001438.1:p.Tyr286Cys
NM_001145437.2:c.617A>G NP_001138909.1:p.Tyr206Cys