Canonical Allele Identifier: CA10610417
Gene: LYST HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.235759109T>C , CM000663.2:g.235759109T>C GRCh38
NC_000001.10:g.235922409T>C , CM000663.1:g.235922409T>C GRCh37
NC_000001.9:g.233989032T>C NCBI36
NG_007397.1:g.129532A>G , LRG_143:g.129532A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000461526.2:c.1419A>G ENSP00000513165.1:p.Leu473=
ENST00000697178.1:c.*2168A>G ENSP00000513163.1:n.*2168A>G
ENST00000697236.1:c.453A>G ENSP00000513203.1:p.Leu151=
ENST00000697241.1:c.1176A>G ENSP00000513206.1:p.Leu392=
ENST00000389793.7:c.6744A>G MANE Select ENSP00000374443.2:p.Leu2248=
ENST00000389793.6:c.6744A>G ENSP00000374443.2:p.Leu2248=
ENST00000389794.7:c.*2168A>G ENSP00000374444.4:n.*2168A>G
NM_000081.3:c.6744A>G , LRG_143t1:c.6744A>G NP_000072.2:p.Leu2248=
NM_001301365.1:c.6744A>G , LRG_143t2:c.6744A>G NP_001288294.1:p.Leu2248=
XM_011544031.1:c.6744A>G XP_011542333.1:p.Leu2248=
XM_011544032.1:c.6744A>G XP_011542334.1:p.Leu2248=
XM_011544033.1:c.6744A>G XP_011542335.1:p.Leu2248=
XM_011544034.1:c.6606A>G XP_011542336.1:p.Leu2202=
XM_011544035.1:c.6744A>G XP_011542337.1:p.Leu2248=
XM_011544036.1:c.4407A>G XP_011542338.1:p.Leu1469=
XM_011544037.1:c.6744A>G XP_011542339.1:p.Leu2248=
XM_011544038.1:c.6744A>G XP_011542340.1:p.Leu2248=
XM_011544039.1:c.6744A>G XP_011542341.1:p.Leu2248=
XM_011544033.2:c.6744A>G XP_011542335.1:p.Leu2248=
XM_011544035.2:c.6744A>G XP_011542337.1:p.Leu2248=
XM_011544036.2:c.4407A>G XP_011542338.1:p.Leu1469=
XM_011544037.2:c.6744A>G XP_011542339.1:p.Leu2248=
XM_011544039.2:c.6744A>G XP_011542341.1:p.Leu2248=
XM_017000150.1:c.6744A>G XP_016855639.1:p.Leu2248=
XR_001736946.2:n.6926A>G
XR_001736947.1:n.6926A>G
XR_001736948.1:n.6926A>G
NM_000081.4:c.6744A>G MANE Select NP_000072.2:p.Leu2248=