Canonical Allele Identifier: CA321966186
Community Standard Title: NM_002340.6(LSS):c.550+216C>G
Gene: LSS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.46221638G>C , CM000683.2:g.46221638G>C GRCh38
NC_000021.8:g.47641552G>C , CM000683.1:g.47641552G>C GRCh37
NC_000021.7:g.46465980G>C NCBI36
NG_011510.1:g.12187C>G

Transcript Alleles

HGVS Amino-acid Change
NM_002340.6:c.550+216C>G MANE Select NP_002331.3:n.550+216C>G
ENST00000397728.8:c.550+216C>G MANE Select ENSP00000380837.2:n.550+216C>G
NM_001001438.2:c.550+216C>G NP_001001438.1:n.550+216C>G
NM_001001438.3:c.550+216C>G NP_001001438.1:n.550+216C>G
NM_001145436.1:c.517+216C>G NP_001138908.1:n.517+216C>G
NM_001145436.2:c.517+216C>G NP_001138908.1:n.517+216C>G
NM_001145437.1:c.310+216C>G NP_001138909.1:n.310+216C>G
NM_001145437.2:c.310+216C>G NP_001138909.1:n.310+216C>G
NM_002340.5:c.550+216C>G NP_002331.3:n.550+216C>G
ENST00000356396.8:c.550+216C>G ENSP00000348762.3:n.550+216C>G
ENST00000397728.7:c.550+216C>G ENSP00000380837.2:n.550+216C>G
ENST00000450351.1:c.553+216C>G ENSP00000391368.1:n.553+216C>G
ENST00000457828.6:c.310+216C>G ENSP00000409191.2:n.310+216C>G
ENST00000464357.1:n.699+216C>G
ENST00000522411.5:c.517+216C>G ENSP00000429133.1:n.517+216C>G
XM_006724004.2:c.550+216C>G XP_006724067.1:n.550+216C>G
XM_006724004.4:c.550+216C>G XP_006724067.1:n.550+216C>G
XM_011529564.1:c.550+216C>G XP_011527866.1:n.550+216C>G
XM_011529564.3:c.550+216C>G XP_011527866.1:n.550+216C>G
XM_011529565.1:c.550+216C>G XP_011527867.1:n.550+216C>G
XM_011529565.2:c.550+216C>G XP_011527867.1:n.550+216C>G
XM_011529566.1:c.517+216C>G XP_011527868.1:n.517+216C>G
XM_011529566.3:c.517+216C>G XP_011527868.1:n.517+216C>G
XM_011529567.1:c.550+216C>G XP_011527869.1:n.550+216C>G
XM_011529567.3:c.550+216C>G XP_011527869.1:n.550+216C>G
XM_017028346.2:c.550+216C>G XP_016883835.1:n.550+216C>G
XM_017028347.1:c.517+216C>G XP_016883836.1:n.517+216C>G
XM_017028348.2:c.550+216C>G XP_016883837.1:n.550+216C>G
XM_024452078.1:c.-71+216C>G XP_024307846.1:n.-71+216C>G
XM_024452079.1:c.-71+216C>G XP_024307847.1:n.-71+216C>G
XR_937491.1:n.625+216C>G
XR_937491.3:n.593+216C>G