Canonical Allele Identifier: CA10433933

Gene: LAS1L

Linked Data

• dbSNP Id: rs779338257
• ExAC: X:64743568 A / C
• gnomAD v2: X-64743568-A-C
• gnomAD v4: X-65523688-A-C
• MyVariant Identifiers: chrX:g.64743568A>C (hg19) ; chrX:g.65523688A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.65523688A>C , CM000685.2:g.65523688A>C	GRCh38
NC_000023.10:g.64743568A>C , CM000685.1:g.64743568A>C	GRCh37
NC_000023.9:g.64660293A>C	NCBI36
NG_016369.1:g.16119T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374811.8:c.1320T>G MANE Select	ENSP00000363944.3:p.Phe440Leu
ENST00000676986.1:c.1269T>G	ENSP00000503577.1:p.Phe423Leu
ENST00000677056.1:c.*723T>G	ENSP00000504224.1:n.*723T>G
ENST00000677087.1:c.972T>G	ENSP00000503907.1:p.Phe324Leu
ENST00000677154.1:n.1352T>G
ENST00000677834.1:n.1308T>G
ENST00000677969.1:c.1269T>G	ENSP00000503410.1:p.Phe423Leu
ENST00000677986.1:n.2253T>G
ENST00000678074.1:n.2300T>G
ENST00000678173.1:n.1403T>G
ENST00000678547.1:n.1594T>G
ENST00000678570.1:c.1362T>G	ENSP00000504558.1:p.Phe454Leu
ENST00000678705.1:n.2388T>G
ENST00000678823.1:c.1320T>G	ENSP00000503795.1:p.Phe440Leu
ENST00000678848.1:n.4576T>G
ENST00000678956.1:c.1320T>G	ENSP00000504653.1:p.Phe440Leu
ENST00000679056.1:n.1415T>G
ENST00000679116.1:n.1536T>G
ENST00000679261.1:n.1405T>G
ENST00000679277.1:n.1873T>G
ENST00000374804.9:c.1143T>G	ENSP00000363937.5:p.Phe381Leu
ENST00000374807.9:c.1269T>G	ENSP00000363940.5:p.Phe423Leu
ENST00000374811.7:c.1320T>G	ENSP00000363944.3:p.Phe440Leu
ENST00000484069.1:c.*334T>G	ENSP00000473471.1:n.*334T>G
NM_001170649.1:c.1269T>G	NP_001164120.1:p.Phe423Leu
NM_001170650.1:c.1143T>G	NP_001164121.1:p.Phe381Leu
NM_031206.4:c.1320T>G	NP_112483.1:p.Phe440Leu
XM_005262301.1:c.1320T>G	XP_005262358.1:p.Phe440Leu
XM_005262304.1:c.1320T>G	XP_005262361.1:p.Phe440Leu
XM_005262305.3:c.1320T>G	XP_005262362.1:p.Phe440Leu
XM_005262306.3:c.1320T>G	XP_005262363.1:p.Phe440Leu
XM_005262307.1:c.414T>G	XP_005262364.1:p.Phe138Leu
XM_011531045.1:c.1194T>G	XP_011529347.1:p.Phe398Leu
XM_011531046.1:c.1320T>G	XP_011529348.1:p.Phe440Leu
XR_244504.1:n.1396T>G
XR_430522.1:n.1396T>G
XR_938411.1:n.1396T>G
XR_938412.1:n.1396T>G
XM_005262301.2:c.1320T>G	XP_005262358.1:p.Phe440Leu
XM_005262304.2:c.1320T>G	XP_005262361.1:p.Phe440Leu
XM_005262305.4:c.1320T>G	XP_005262362.1:p.Phe440Leu
XM_005262306.4:c.1320T>G	XP_005262363.1:p.Phe440Leu
XM_011531045.2:c.1194T>G	XP_011529347.1:p.Phe398Leu
XM_011531046.2:c.1320T>G	XP_011529348.1:p.Phe440Leu
XM_017029877.2:c.1269T>G	XP_016885366.1:p.Phe423Leu
XM_017029878.2:c.1269T>G	XP_016885367.1:p.Phe423Leu
XM_017029879.2:c.414T>G	XP_016885368.1:p.Phe138Leu
XM_017029880.2:c.363T>G	XP_016885369.1:p.Phe121Leu
XR_001755730.2:n.1332T>G
XR_001755731.2:n.1383T>G
XR_001755732.2:n.1383T>G
XR_001755733.2:n.1332T>G
XR_244504.2:n.1383T>G
XR_430522.2:n.1383T>G
XR_938412.2:n.1383T>G
NM_001375328.1:c.1320T>G	NP_001362257.1:p.Phe440Leu
NM_001375329.1:c.1320T>G	NP_001362258.1:p.Phe440Leu
NM_001375330.1:c.1320T>G	NP_001362259.1:p.Phe440Leu
NM_001375331.1:c.1269T>G	NP_001362260.1:p.Phe423Leu
NM_001375332.1:c.363T>G	NP_001362261.1:p.Phe121Leu
NM_001375333.1:c.1269T>G	NP_001362262.1:p.Phe423Leu
NM_001375334.1:c.1320T>G	NP_001362263.1:p.Phe440Leu
NM_001375335.1:c.1320T>G	NP_001362264.1:p.Phe440Leu
NM_001375336.1:c.1269T>G	NP_001362265.1:p.Phe423Leu
NM_001375337.1:c.1269T>G	NP_001362266.1:p.Phe423Leu
NM_031206.7:c.1320T>G MANE Select	NP_112483.1:p.Phe440Leu
NR_164681.1:n.1392T>G
NM_001170649.2:c.1269T>G	NP_001164120.1:p.Phe423Leu
NM_001170650.2:c.1143T>G	NP_001164121.1:p.Phe381Leu