Canonical Allele Identifier: CA14865461

Gene: LSS

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46210636C>T , CM000683.2:g.46210636C>T	GRCh38
NC_000021.8:g.47630550C>T , CM000683.1:g.47630550C>T	GRCh37
NC_000021.7:g.46454978C>T	NCBI36
NG_011510.1:g.23189G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_002340.6:c.1194+52G>A MANE Select	NP_002331.3:n.1194+52G>A
ENST00000397728.8:c.1194+52G>A MANE Select	ENSP00000380837.2:n.1194+52G>A
NM_001001438.2:c.1194+52G>A	NP_001001438.1:n.1194+52G>A
NM_001001438.3:c.1194+52G>A	NP_001001438.1:n.1194+52G>A
NM_001145436.1:c.1161+52G>A	NP_001138908.1:n.1161+52G>A
NM_001145436.2:c.1161+52G>A	NP_001138908.1:n.1161+52G>A
NM_001145437.1:c.954+52G>A	NP_001138909.1:n.954+52G>A
NM_001145437.2:c.954+52G>A	NP_001138909.1:n.954+52G>A
NM_002340.5:c.1194+52G>A	NP_002331.3:n.1194+52G>A
ENST00000356396.8:c.1194+52G>A	ENSP00000348762.3:n.1194+52G>A
ENST00000397728.7:c.1194+52G>A	ENSP00000380837.2:n.1194+52G>A
ENST00000457828.6:c.954+52G>A	ENSP00000409191.2:n.954+52G>A
ENST00000522411.5:c.1161+52G>A	ENSP00000429133.1:n.1161+52G>A
XM_006724004.2:c.1194+52G>A	XP_006724067.1:n.1194+52G>A
XM_006724004.4:c.1194+52G>A	XP_006724067.1:n.1194+52G>A
XM_011529564.1:c.1194+52G>A	XP_011527866.1:n.1194+52G>A
XM_011529564.3:c.1194+52G>A	XP_011527866.1:n.1194+52G>A
XM_011529565.1:c.1194+52G>A	XP_011527867.1:n.1194+52G>A
XM_011529565.2:c.1194+52G>A	XP_011527867.1:n.1194+52G>A
XM_011529566.1:c.1161+52G>A	XP_011527868.1:n.1161+52G>A
XM_011529566.3:c.1161+52G>A	XP_011527868.1:n.1161+52G>A
XM_011529567.1:c.1194+52G>A	XP_011527869.1:n.1194+52G>A
XM_011529567.3:c.1194+52G>A	XP_011527869.1:n.1194+52G>A
XM_017028346.2:c.1194+52G>A	XP_016883835.1:n.1194+52G>A
XM_017028347.1:c.1161+52G>A	XP_016883836.1:n.1161+52G>A
XM_017028348.2:c.1194+52G>A	XP_016883837.1:n.1194+52G>A
XM_024452078.1:c.477+52G>A	XP_024307846.1:n.477+52G>A
XM_024452079.1:c.477+52G>A	XP_024307847.1:n.477+52G>A
XR_937491.1:n.1269+52G>A
XR_937491.3:n.1237+52G>A