Canonical Allele Identifier: CA344957186
Gene: LYST HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.235806687G>T , CM000663.2:g.235806687G>T GRCh38
NC_000001.10:g.235969987G>T , CM000663.1:g.235969987G>T GRCh37
NC_000001.9:g.234036610G>T NCBI36
NG_007397.1:g.81954C>A , LRG_143:g.81954C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000697178.1:c.2449C>A ENSP00000513163.1:p.Leu817Ile
ENST00000697242.1:c.1852C>A ENSP00000513207.1:p.Leu618Ile
ENST00000389793.7:c.2449C>A MANE Select ENSP00000374443.2:p.Leu817Ile
ENST00000389793.6:c.2449C>A ENSP00000374443.2:p.Leu817Ile
ENST00000389794.7:c.2449C>A ENSP00000374444.4:p.Leu817Ile
ENST00000465349.5:n.3000C>A
ENST00000489585.5:n.3000C>A
NM_000081.3:c.2449C>A , LRG_143t1:c.2449C>A NP_000072.2:p.Leu817Ile
NM_001301365.1:c.2449C>A , LRG_143t2:c.2449C>A NP_001288294.1:p.Leu817Ile
XM_011544031.1:c.2449C>A XP_011542333.1:p.Leu817Ile
XM_011544032.1:c.2449C>A XP_011542334.1:p.Leu817Ile
XM_011544033.1:c.2449C>A XP_011542335.1:p.Leu817Ile
XM_011544034.1:c.2449C>A XP_011542336.1:p.Leu817Ile
XM_011544035.1:c.2449C>A XP_011542337.1:p.Leu817Ile
XM_011544036.1:c.112C>A XP_011542338.1:p.Leu38Ile
XM_011544037.1:c.2449C>A XP_011542339.1:p.Leu817Ile
XM_011544038.1:c.2449C>A XP_011542340.1:p.Leu817Ile
XM_011544039.1:c.2449C>A XP_011542341.1:p.Leu817Ile
XM_011544040.1:c.2449C>A XP_011542342.1:p.Leu817Ile
XM_011544033.2:c.2449C>A XP_011542335.1:p.Leu817Ile
XM_011544035.2:c.2449C>A XP_011542337.1:p.Leu817Ile
XM_011544036.2:c.112C>A XP_011542338.1:p.Leu38Ile
XM_011544037.2:c.2449C>A XP_011542339.1:p.Leu817Ile
XM_011544039.2:c.2449C>A XP_011542341.1:p.Leu817Ile
XM_017000150.1:c.2449C>A XP_016855639.1:p.Leu817Ile
XM_017000151.1:c.2449C>A XP_016855640.1:p.Leu817Ile
XR_001736946.2:n.2631C>A
XR_001736947.1:n.2631C>A
XR_001736948.1:n.2631C>A
XR_002959252.1:n.2631C>A
NM_000081.4:c.2449C>A MANE Select NP_000072.2:p.Leu817Ile