Canonical Allele Identifier: CA344942354

Gene: LYST

Linked Data - Variant Effect Evidence

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.235720669C>G , CM000663.2:g.235720669C>G	GRCh38
NC_000001.10:g.235883969C>G , CM000663.1:g.235883969C>G	GRCh37
NC_000001.9:g.233950592C>G	NCBI36
NG_007397.1:g.167972G>C , LRG_143:g.167972G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461526.2:c.5080G>C	ENSP00000513165.1:n.5080G>C
ENST00000475277.2:c.1647G>C	ENSP00000513164.1:p.Leu549Phe
ENST00000697178.1:c.*4976G>C	ENSP00000513163.1:n.*4976G>C
ENST00000697235.1:c.102G>C	ENSP00000513202.1:p.Leu34Phe
ENST00000697236.1:c.3024+3359G>C	ENSP00000513203.1:n.3024+3359G>C
ENST00000697237.1:c.508G>C
ENST00000697240.1:c.1686G>C	ENSP00000513205.1:p.Leu562Phe
ENST00000697241.1:c.4032G>C	ENSP00000513206.1:p.Leu1344Phe
ENST00000389793.7:c.9552G>C MANE Select	ENSP00000374443.2:p.Leu3184Phe
ENST00000389793.6:c.9552G>C	ENSP00000374443.2:p.Leu3184Phe
ENST00000389794.7:c.*4976G>C	ENSP00000374444.4:n.*4976G>C
ENST00000473037.5:n.4542G>C
ENST00000475277.1:n.418G>C
NM_000081.3:c.9552G>C , LRG_143t1:c.9552G>C	NP_000072.2:p.Leu3184Phe
NM_001301365.1:c.9552G>C , LRG_143t2:c.9552G>C	NP_001288294.1:p.Leu3184Phe
XM_011544031.1:c.9714G>C	XP_011542333.1:p.Leu3238Phe
XM_011544032.1:c.9714G>C	XP_011542334.1:p.Leu3238Phe
XM_011544033.1:c.9714G>C	XP_011542335.1:p.Leu3238Phe
XM_011544034.1:c.9576G>C	XP_011542336.1:p.Leu3192Phe
XM_011544035.1:c.9714G>C	XP_011542337.1:p.Leu3238Phe
XM_011544036.1:c.7377G>C	XP_011542338.1:p.Leu2459Phe
XM_011544033.2:c.9714G>C	XP_011542335.1:p.Leu3238Phe
XM_011544035.2:c.9714G>C	XP_011542337.1:p.Leu3238Phe
XM_011544036.2:c.7377G>C	XP_011542338.1:p.Leu2459Phe
XM_017000150.1:c.9714G>C	XP_016855639.1:p.Leu3238Phe
XR_001736947.1:n.10587G>C
NM_000081.4:c.9552G>C MANE Select	NP_000072.2:p.Leu3184Phe