Canonical Allele Identifier: CA10074819

Gene: LSS

Linked Data

• ClinVar Variation Id: 783884
• ClinVar RCV Id: RCV000965494 ; RCV004535941
• dbSNP Id: rs61735802
• ExAC: 21:47614528 C / T
• gnomAD v2: 21-47614528-C-T
• gnomAD v3: 21-46194614-C-T
• gnomAD v4: 21-46194614-C-T
• MyVariant Identifiers: chr21:g.47614528C>T (hg19) ; chr21:g.46194614C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46194614C>T , CM000683.2:g.46194614C>T	GRCh38
NC_000021.8:g.47614528C>T , CM000683.1:g.47614528C>T	GRCh37
NC_000021.7:g.46438956C>T	NCBI36
NG_011510.1:g.39211G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397728.8:c.1865G>A MANE Select	ENSP00000380837.2:p.Arg622Gln
ENST00000356396.8:c.1865G>A	ENSP00000348762.3:p.Arg622Gln
ENST00000397728.7:c.1865G>A	ENSP00000380837.2:p.Arg622Gln
ENST00000457828.6:c.1625G>A	ENSP00000409191.2:p.Arg542Gln
ENST00000522411.5:c.1832G>A	ENSP00000429133.1:p.Arg611Gln
NM_001001438.2:c.1865G>A	NP_001001438.1:p.Arg622Gln
NM_001145436.1:c.1832G>A	NP_001138908.1:p.Arg611Gln
NM_001145437.1:c.1625G>A	NP_001138909.1:p.Arg542Gln
NM_002340.5:c.1865G>A	NP_002331.3:p.Arg622Gln
XM_011529564.1:c.1895G>A	XP_011527866.1:p.Arg632Gln
XM_011529565.1:c.1895G>A	XP_011527867.1:p.Arg632Gln
XM_011529566.1:c.1862G>A	XP_011527868.1:p.Arg621Gln
XM_011529567.1:c.1799G>A	XP_011527869.1:p.Arg600Gln
XM_011529564.3:c.1895G>A	XP_011527866.1:p.Arg632Gln
XM_011529565.2:c.1895G>A	XP_011527867.1:p.Arg632Gln
XM_011529566.3:c.1862G>A	XP_011527868.1:p.Arg621Gln
XM_011529567.3:c.1799G>A	XP_011527869.1:p.Arg600Gln
XM_017028346.2:c.1865G>A	XP_016883835.1:p.Arg622Gln
XM_017028347.1:c.1832G>A	XP_016883836.1:p.Arg611Gln
XM_017028348.2:c.1799G>A	XP_016883837.1:p.Arg600Gln
XM_024452078.1:c.1178G>A	XP_024307846.1:p.Arg393Gln
XM_024452079.1:c.1082G>A	XP_024307847.1:p.Arg361Gln
NM_002340.6:c.1865G>A MANE Select	NP_002331.3:p.Arg622Gln
NM_001145436.2:c.1832G>A	NP_001138908.1:p.Arg611Gln
NM_001001438.3:c.1865G>A	NP_001001438.1:p.Arg622Gln
NM_001145437.2:c.1625G>A	NP_001138909.1:p.Arg542Gln