Canonical Allele Identifier: CA10074957
Gene: LSS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.46206672C>T , CM000683.2:g.46206672C>T GRCh38
NC_000021.8:g.47626586C>T , CM000683.1:g.47626586C>T GRCh37
NC_000021.7:g.46451014C>T NCBI36
NG_011510.1:g.27153G>A

Transcript Alleles

HGVS Amino-acid Change
NM_002340.6:c.1564G>A MANE Select NP_002331.3:p.Gly522Arg
ENST00000397728.8:c.1564G>A MANE Select ENSP00000380837.2:p.Gly522Arg
NM_001001438.2:c.1564G>A NP_001001438.1:p.Gly522Arg
NM_001001438.3:c.1564G>A NP_001001438.1:p.Gly522Arg
NM_001145436.1:c.1531G>A NP_001138908.1:p.Gly511Arg
NM_001145436.2:c.1531G>A NP_001138908.1:p.Gly511Arg
NM_001145437.1:c.1324G>A NP_001138909.1:p.Gly442Arg
NM_001145437.2:c.1324G>A NP_001138909.1:p.Gly442Arg
NM_002340.5:c.1564G>A NP_002331.3:p.Gly522Arg
ENST00000356396.8:c.1564G>A ENSP00000348762.3:p.Gly522Arg
ENST00000397728.7:c.1564G>A ENSP00000380837.2:p.Gly522Arg
ENST00000457828.6:c.1324G>A ENSP00000409191.2:p.Gly442Arg
ENST00000522411.5:c.1531G>A ENSP00000429133.1:p.Gly511Arg
XM_011529564.1:c.1564G>A XP_011527866.1:p.Gly522Arg
XM_011529564.3:c.1564G>A XP_011527866.1:p.Gly522Arg
XM_011529565.1:c.1564G>A XP_011527867.1:p.Gly522Arg
XM_011529565.2:c.1564G>A XP_011527867.1:p.Gly522Arg
XM_011529566.1:c.1531G>A XP_011527868.1:p.Gly511Arg
XM_011529566.3:c.1531G>A XP_011527868.1:p.Gly511Arg
XM_011529567.1:c.1564G>A XP_011527869.1:p.Gly522Arg
XM_011529567.3:c.1564G>A XP_011527869.1:p.Gly522Arg
XM_017028346.2:c.1564G>A XP_016883835.1:p.Gly522Arg
XM_017028347.1:c.1531G>A XP_016883836.1:p.Gly511Arg
XM_017028348.2:c.1564G>A XP_016883837.1:p.Gly522Arg
XM_024452078.1:c.847G>A XP_024307846.1:p.Gly283Arg
XM_024452079.1:c.847G>A XP_024307847.1:p.Gly283Arg
XR_937491.1:n.1639G>A
XR_937491.3:n.1607G>A