Canonical Allele Identifier: CA344923080
Community Standard Title: NM_000081.4(LYST):c.8358+2T>G
Gene: LYST HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.235741420A>C , CM000663.2:g.235741420A>C GRCh38
NC_000001.10:g.235904720A>C , CM000663.1:g.235904720A>C GRCh37
NC_000001.9:g.233971343A>C NCBI36
NG_007397.1:g.147221T>G , LRG_143:g.147221T>G

Transcript Alleles

HGVS Amino-acid Change
NM_000081.4:c.8358+2T>G MANE Select NP_000072.2:n.8358+2T>G
ENST00000389793.7:c.8358+2T>G MANE Select ENSP00000374443.2:n.8358+2T>G
NM_000081.3:c.8358+2T>G , LRG_143t1:c.8358+2T>G NP_000072.2:n.8358+2T>G
NM_001301365.1:c.8358+2T>G , LRG_143t2:c.8358+2T>G NP_001288294.1:n.8358+2T>G
ENST00000389793.6:c.8358+2T>G ENSP00000374443.2:n.8358+2T>G
ENST00000389794.7:c.*3782+2T>G ENSP00000374444.4:n.*3782+2T>G
ENST00000461526.1:n.261+2T>G
ENST00000461526.2:c.3033+2T>G ENSP00000513165.1:n.3033+2T>G
ENST00000475277.2:c.453+2T>G ENSP00000513164.1:n.453+2T>G
ENST00000697178.1:c.*3782+2T>G ENSP00000513163.1:n.*3782+2T>G
ENST00000697236.1:c.2067+2T>G ENSP00000513203.1:n.2067+2T>G
ENST00000697240.1:c.492+2T>G ENSP00000513205.1:n.492+2T>G
ENST00000697241.1:c.2838+2T>G ENSP00000513206.1:n.2838+2T>G
XM_011544031.1:c.8520+2T>G XP_011542333.1:n.8520+2T>G
XM_011544032.1:c.8520+2T>G XP_011542334.1:n.8520+2T>G
XM_011544033.1:c.8520+2T>G XP_011542335.1:n.8520+2T>G
XM_011544033.2:c.8520+2T>G XP_011542335.1:n.8520+2T>G
XM_011544034.1:c.8382+2T>G XP_011542336.1:n.8382+2T>G
XM_011544035.1:c.8520+2T>G XP_011542337.1:n.8520+2T>G
XM_011544035.2:c.8520+2T>G XP_011542337.1:n.8520+2T>G
XM_011544036.1:c.6183+2T>G XP_011542338.1:n.6183+2T>G
XM_011544036.2:c.6183+2T>G XP_011542338.1:n.6183+2T>G
XM_011544037.1:c.8520+2T>G XP_011542339.1:n.8520+2T>G
XM_011544037.2:c.8520+2T>G XP_011542339.1:n.8520+2T>G
XM_011544038.1:c.8520+2T>G XP_011542340.1:n.8520+2T>G
XM_017000150.1:c.8520+2T>G XP_016855639.1:n.8520+2T>G
XR_001736946.2:n.8702+2T>G
XR_001736947.1:n.8540+2T>G
XR_001736948.1:n.7991T>G