Canonical Allele Identifier: CA10075300

Gene: LSS

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46215731G>A , CM000683.2:g.46215731G>A	GRCh38
NC_000021.8:g.47635645G>A , CM000683.1:g.47635645G>A	GRCh37
NC_000021.7:g.46460073G>A	NCBI36
NG_011510.1:g.18094C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_002340.6:c.846C>T MANE Select	NP_002331.3:p.Pro282=
ENST00000397728.8:c.846C>T MANE Select	ENSP00000380837.2:p.Pro282=
NM_001001438.2:c.846C>T	NP_001001438.1:p.Pro282=
NM_001001438.3:c.846C>T	NP_001001438.1:p.Pro282=
NM_001145436.1:c.813C>T	NP_001138908.1:p.Pro271=
NM_001145436.2:c.813C>T	NP_001138908.1:p.Pro271=
NM_001145437.1:c.606C>T	NP_001138909.1:p.Pro202=
NM_001145437.2:c.606C>T	NP_001138909.1:p.Pro202=
NM_002340.5:c.846C>T	NP_002331.3:p.Pro282=
ENST00000356396.8:c.846C>T	ENSP00000348762.3:p.Pro282=
ENST00000397728.7:c.846C>T	ENSP00000380837.2:p.Pro282=
ENST00000457828.6:c.606C>T	ENSP00000409191.2:p.Pro202=
ENST00000464357.1:n.995C>T
ENST00000522411.5:c.813C>T	ENSP00000429133.1:p.Pro271=
XM_006724004.2:c.846C>T	XP_006724067.1:p.Pro282=
XM_006724004.4:c.846C>T	XP_006724067.1:p.Pro282=
XM_011529564.1:c.846C>T	XP_011527866.1:p.Pro282=
XM_011529564.3:c.846C>T	XP_011527866.1:p.Pro282=
XM_011529565.1:c.846C>T	XP_011527867.1:p.Pro282=
XM_011529565.2:c.846C>T	XP_011527867.1:p.Pro282=
XM_011529566.1:c.813C>T	XP_011527868.1:p.Pro271=
XM_011529566.3:c.813C>T	XP_011527868.1:p.Pro271=
XM_011529567.1:c.846C>T	XP_011527869.1:p.Pro282=
XM_011529567.3:c.846C>T	XP_011527869.1:p.Pro282=
XM_017028346.2:c.846C>T	XP_016883835.1:p.Pro282=
XM_017028347.1:c.813C>T	XP_016883836.1:p.Pro271=
XM_017028348.2:c.846C>T	XP_016883837.1:p.Pro282=
XM_024452078.1:c.129C>T	XP_024307846.1:p.Pro43=
XM_024452079.1:c.129C>T	XP_024307847.1:p.Pro43=
XR_937491.1:n.921C>T
XR_937491.3:n.889C>T