Canonical Allele Identifier: CA1465242
Gene: LYST HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.235677074G>A , CM000663.2:g.235677074G>A GRCh38
NC_000001.10:g.235840374G>A , CM000663.1:g.235840374G>A GRCh37
NC_000001.9:g.233906997G>A NCBI36
NG_007397.1:g.211567C>T , LRG_143:g.211567C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000462376.2:n.2448+17C>T
ENST00000697178.1:c.*7024+17C>T ENSP00000513163.1:n.*7024+17C>T
ENST00000697235.1:c.1588+17C>T ENSP00000513202.1:n.1588+17C>T
ENST00000697236.1:c.4502+17C>T ENSP00000513203.1:n.4502+17C>T
ENST00000697237.1:c.1749+17C>T
ENST00000697239.1:n.432+17C>T
ENST00000697240.1:c.3172+17C>T ENSP00000513205.1:n.3172+17C>T
ENST00000389793.7:c.11038+17C>T MANE Select ENSP00000374443.2:n.11038+17C>T
ENST00000389793.6:c.11038+17C>T ENSP00000374443.2:n.11038+17C>T
ENST00000389794.7:c.*6462+17C>T ENSP00000374444.4:n.*6462+17C>T
ENST00000473037.5:n.6028+17C>T
NM_000081.3:c.11038+17C>T , LRG_143t1:c.11038+17C>T NP_000072.2:n.11038+17C>T
NM_001301365.1:c.11038+17C>T , LRG_143t2:c.11038+17C>T NP_001288294.1:n.11038+17C>T
XM_011544031.1:c.11200+17C>T XP_011542333.1:n.11200+17C>T
XM_011544032.1:c.11200+17C>T XP_011542334.1:n.11200+17C>T
XM_011544033.1:c.11200+17C>T XP_011542335.1:n.11200+17C>T
XM_011544034.1:c.11062+17C>T XP_011542336.1:n.11062+17C>T
XM_011544036.1:c.8863+17C>T XP_011542338.1:n.8863+17C>T
XM_011544033.2:c.11200+17C>T XP_011542335.1:n.11200+17C>T
XM_011544036.2:c.8863+17C>T XP_011542338.1:n.8863+17C>T
XM_017000150.1:c.10969+17C>T XP_016855639.1:n.10969+17C>T
NM_000081.4:c.11038+17C>T MANE Select NP_000072.2:n.11038+17C>T