Canonical Allele Identifier: CA413320549

Gene: LAS1L

Linked Data

• ClinVar Variation Id: 1193682
• ClinVar RCV Id: RCV001556165 ; RCV002032617
• dbSNP Id: rs2069620231
• gnomAD v4: X-65533652-C-T
• MyVariant Identifiers: chrX:g.64753532C>T (hg19) ; chrX:g.65533652C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.65533652C>T , CM000685.2:g.65533652C>T	GRCh38
NC_000023.10:g.64753532C>T , CM000685.1:g.64753532C>T	GRCh37
NC_000023.9:g.64670257C>T	NCBI36
NG_016369.1:g.6155G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374811.8:c.320G>A MANE Select	ENSP00000363944.3:p.Gly107Asp
ENST00000676986.1:c.320G>A	ENSP00000503577.1:p.Gly107Asp
ENST00000677056.1:c.320G>A	ENSP00000504224.1:p.Gly107Asp
ENST00000677087.1:c.-29G>A	ENSP00000503907.1:n.-29G>A
ENST00000677154.1:n.403G>A
ENST00000677834.1:n.359G>A
ENST00000677969.1:c.320G>A	ENSP00000503410.1:p.Gly107Asp
ENST00000677986.1:n.411G>A
ENST00000678074.1:n.403G>A
ENST00000678173.1:n.403G>A
ENST00000678547.1:n.403G>A
ENST00000678570.1:c.320G>A	ENSP00000504558.1:p.Gly107Asp
ENST00000678602.1:n.403G>A
ENST00000678705.1:n.403G>A
ENST00000678823.1:c.320G>A	ENSP00000503795.1:p.Gly107Asp
ENST00000678848.1:n.1106G>A
ENST00000678956.1:c.320G>A	ENSP00000504653.1:p.Gly107Asp
ENST00000679056.1:n.415G>A
ENST00000679116.1:n.392G>A
ENST00000679261.1:n.405G>A
ENST00000679277.1:n.403G>A
ENST00000374804.9:c.236+828G>A	ENSP00000363937.5:n.236+828G>A
ENST00000374807.9:c.320G>A	ENSP00000363940.5:p.Gly107Asp
ENST00000374811.7:c.320G>A	ENSP00000363944.3:p.Gly107Asp
ENST00000484069.1:c.320G>A	ENSP00000473471.1:p.Gly107Asp
NM_001170649.1:c.320G>A	NP_001164120.1:p.Gly107Asp
NM_001170650.1:c.236+828G>A	NP_001164121.1:n.236+828G>A
NM_031206.4:c.320G>A	NP_112483.1:p.Gly107Asp
XM_005262301.1:c.320G>A	XP_005262358.1:p.Gly107Asp
XM_005262304.1:c.320G>A	XP_005262361.1:p.Gly107Asp
XM_005262305.3:c.320G>A	XP_005262362.1:p.Gly107Asp
XM_005262306.3:c.320G>A	XP_005262363.1:p.Gly107Asp
XM_011531045.1:c.236+828G>A	XP_011529347.1:n.236+828G>A
XM_011531046.1:c.320G>A	XP_011529348.1:p.Gly107Asp
XR_244504.1:n.396G>A
XR_430522.1:n.396G>A
XR_938411.1:n.396G>A
XR_938412.1:n.396G>A
XM_005262301.2:c.320G>A	XP_005262358.1:p.Gly107Asp
XM_005262304.2:c.320G>A	XP_005262361.1:p.Gly107Asp
XM_005262305.4:c.320G>A	XP_005262362.1:p.Gly107Asp
XM_005262306.4:c.320G>A	XP_005262363.1:p.Gly107Asp
XM_011531045.2:c.236+828G>A	XP_011529347.1:n.236+828G>A
XM_011531046.2:c.320G>A	XP_011529348.1:p.Gly107Asp
XM_017029877.2:c.320G>A	XP_016885366.1:p.Gly107Asp
XM_017029878.2:c.320G>A	XP_016885367.1:p.Gly107Asp
XM_017029879.2:c.-477G>A	XP_016885368.1:n.-477G>A
XM_017029880.2:c.-477G>A	XP_016885369.1:n.-477G>A
XR_001755730.2:n.383G>A
XR_001755731.2:n.383G>A
XR_001755732.2:n.383G>A
XR_001755733.2:n.383G>A
XR_244504.2:n.383G>A
XR_430522.2:n.383G>A
XR_938412.2:n.383G>A
NM_001375328.1:c.320G>A	NP_001362257.1:p.Gly107Asp
NM_001375329.1:c.320G>A	NP_001362258.1:p.Gly107Asp
NM_001375330.1:c.320G>A	NP_001362259.1:p.Gly107Asp
NM_001375331.1:c.320G>A	NP_001362260.1:p.Gly107Asp
NM_001375332.1:c.-477G>A	NP_001362261.1:n.-477G>A
NM_001375333.1:c.320G>A	NP_001362262.1:p.Gly107Asp
NM_001375334.1:c.320G>A	NP_001362263.1:p.Gly107Asp
NM_001375335.1:c.320G>A	NP_001362264.1:p.Gly107Asp
NM_001375336.1:c.320G>A	NP_001362265.1:p.Gly107Asp
NM_001375337.1:c.320G>A	NP_001362266.1:p.Gly107Asp
NM_031206.7:c.320G>A MANE Select	NP_112483.1:p.Gly107Asp
NR_164681.1:n.392G>A
NM_001170649.2:c.320G>A	NP_001164120.1:p.Gly107Asp
NM_001170650.2:c.236+828G>A	NP_001164121.1:n.236+828G>A