Canonical Allele Identifier: CA16609203
Gene: LAS1L HGNC NCBI

Linked Data

ClinVar Variation Id: 384751
ClinVar RCV Id: RCV000418984
dbSNP Id: rs1057522039

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.65514854G>A , CM000685.2:g.65514854G>A GRCh38
NC_000023.10:g.64734734G>A , CM000685.1:g.64734734G>A GRCh37
NC_000023.9:g.64651459G>A NCBI36
NG_016369.1:g.24953C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000374811.8:c.2047C>T MANE Select ENSP00000363944.3:p.Gln683Ter
ENST00000677056.1:c.*851+8706C>T ENSP00000504224.1:n.*851+8706C>T
ENST00000677087.1:c.1699C>T ENSP00000503907.1:p.Gln567Ter
ENST00000677154.1:n.6102C>T
ENST00000677834.1:n.2035C>T
ENST00000677969.1:c.1876+3133C>T ENSP00000503410.1:n.1876+3133C>T
ENST00000677986.1:n.3096C>T
ENST00000678074.1:n.4674C>T
ENST00000678173.1:n.3382C>T
ENST00000678547.1:n.6665C>T
ENST00000678705.1:n.4762C>T
ENST00000678848.1:n.6950C>T
ENST00000678956.1:c.*1900C>T ENSP00000504653.1:n.*1900C>T
ENST00000679056.1:n.6025C>T
ENST00000679116.1:n.7240C>T
ENST00000679261.1:n.6147C>T
ENST00000679277.1:n.6483C>T
ENST00000374804.9:c.1870C>T ENSP00000363937.5:p.Gln624Ter
ENST00000374807.9:c.1996C>T ENSP00000363940.5:p.Gln666Ter
ENST00000374811.7:c.2047C>T ENSP00000363944.3:p.Gln683Ter
ENST00000484069.1:c.*3919C>T ENSP00000473471.1:n.*3919C>T
NM_001170649.1:c.1996C>T NP_001164120.1:p.Gln666Ter
NM_001170650.1:c.1870C>T NP_001164121.1:p.Gln624Ter
NM_031206.4:c.2047C>T NP_112483.1:p.Gln683Ter
XM_005262301.1:c.2044C>T XP_005262358.1:p.Gln682Ter
XM_005262307.1:c.1141C>T XP_005262364.1:p.Gln381Ter
XM_011531045.1:c.1921C>T XP_011529347.1:p.Gln641Ter
XR_244504.1:n.2239C>T
XR_430522.1:n.2236C>T
XM_005262301.2:c.2044C>T XP_005262358.1:p.Gln682Ter
XM_011531045.2:c.1921C>T XP_011529347.1:p.Gln641Ter
XM_017029877.2:c.1993C>T XP_016885366.1:p.Gln665Ter
XM_017029879.2:c.1141C>T XP_016885368.1:p.Gln381Ter
XM_017029880.2:c.1090C>T XP_016885369.1:p.Gln364Ter
XR_001755730.2:n.2175C>T
XR_001755731.2:n.3694C>T
XR_001755732.2:n.3757C>T
XR_001755733.2:n.3706C>T
XR_244504.2:n.2226C>T
XR_430522.2:n.2223C>T
NM_001375328.1:c.2044C>T NP_001362257.1:p.Gln682Ter
NM_001375332.1:c.1090C>T NP_001362261.1:p.Gln364Ter
NM_001375333.1:c.1993C>T NP_001362262.1:p.Gln665Ter
NM_031206.7:c.2047C>T MANE Select NP_112483.1:p.Gln683Ter
NR_164681.1:n.2235C>T
NM_001170649.2:c.1996C>T NP_001164120.1:p.Gln666Ter
NM_001170650.2:c.1870C>T NP_001164121.1:p.Gln624Ter