Canonical Allele Identifier: CA344947837
Gene: LYST HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.235766211C>G , CM000663.2:g.235766211C>G GRCh38
NC_000001.10:g.235929511C>G , CM000663.1:g.235929511C>G GRCh37
NC_000001.9:g.233996134C>G NCBI36
NG_007397.1:g.122430G>C , LRG_143:g.122430G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000461526.2:c.664G>C ENSP00000513165.1:p.Ala222Pro
ENST00000697178.1:c.*1413G>C ENSP00000513163.1:n.*1413G>C
ENST00000697180.1:c.557+28G>C
ENST00000697241.1:c.421G>C ENSP00000513206.1:p.Ala141Pro
ENST00000389793.7:c.5989G>C MANE Select ENSP00000374443.2:p.Ala1997Pro
ENST00000389793.6:c.5989G>C ENSP00000374443.2:p.Ala1997Pro
ENST00000389794.7:c.*1413G>C ENSP00000374444.4:n.*1413G>C
ENST00000489585.5:n.6512+28G>C
NM_000081.3:c.5989G>C , LRG_143t1:c.5989G>C NP_000072.2:p.Ala1997Pro
NM_001301365.1:c.5989G>C , LRG_143t2:c.5989G>C NP_001288294.1:p.Ala1997Pro
XM_011544031.1:c.5989G>C XP_011542333.1:p.Ala1997Pro
XM_011544032.1:c.5989G>C XP_011542334.1:p.Ala1997Pro
XM_011544033.1:c.5989G>C XP_011542335.1:p.Ala1997Pro
XM_011544034.1:c.5851G>C XP_011542336.1:p.Ala1951Pro
XM_011544035.1:c.5989G>C XP_011542337.1:p.Ala1997Pro
XM_011544036.1:c.3652G>C XP_011542338.1:p.Ala1218Pro
XM_011544037.1:c.5989G>C XP_011542339.1:p.Ala1997Pro
XM_011544038.1:c.5989G>C XP_011542340.1:p.Ala1997Pro
XM_011544039.1:c.5989G>C XP_011542341.1:p.Ala1997Pro
XM_011544040.1:c.5961+28G>C XP_011542342.1:n.5961+28G>C
XM_011544033.2:c.5989G>C XP_011542335.1:p.Ala1997Pro
XM_011544035.2:c.5989G>C XP_011542337.1:p.Ala1997Pro
XM_011544036.2:c.3652G>C XP_011542338.1:p.Ala1218Pro
XM_011544037.2:c.5989G>C XP_011542339.1:p.Ala1997Pro
XM_011544039.2:c.5989G>C XP_011542341.1:p.Ala1997Pro
XM_017000150.1:c.5989G>C XP_016855639.1:p.Ala1997Pro
XM_017000151.1:c.5823+28G>C XP_016855640.1:n.5823+28G>C
XR_001736946.2:n.6171G>C
XR_001736947.1:n.6171G>C
XR_001736948.1:n.6171G>C
XR_002959252.1:n.6143+28G>C
NM_000081.4:c.5989G>C MANE Select NP_000072.2:p.Ala1997Pro