Canonical Allele Identifier: CA344929008

Gene: LYST

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.235697155C>G , CM000663.2:g.235697155C>G	GRCh38
NC_000001.10:g.235860455C>G , CM000663.1:g.235860455C>G	GRCh37
NC_000001.9:g.233927078C>G	NCBI36
NG_007397.1:g.191486G>C , LRG_143:g.191486G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000081.4:c.10492G>C MANE Select	NP_000072.2:p.Ala3498Pro
ENST00000389793.7:c.10492G>C MANE Select	ENSP00000374443.2:p.Ala3498Pro
NM_000081.3:c.10492G>C , LRG_143t1:c.10492G>C	NP_000072.2:p.Ala3498Pro
NM_001301365.1:c.10492G>C , LRG_143t2:c.10492G>C	NP_001288294.1:p.Ala3498Pro
ENST00000389793.6:c.10492G>C	ENSP00000374443.2:p.Ala3498Pro
ENST00000389794.7:c.*5916G>C	ENSP00000374444.4:n.*5916G>C
ENST00000462376.2:n.1902G>C
ENST00000473037.5:n.5482G>C
ENST00000697178.1:c.*6187G>C	ENSP00000513163.1:n.*6187G>C
ENST00000697179.1:n.3201G>C
ENST00000697235.1:c.1042G>C	ENSP00000513202.1:p.Ala348Pro
ENST00000697236.1:c.3956G>C	ENSP00000513203.1:n.3956G>C
ENST00000697237.1:c.1203G>C
ENST00000697240.1:c.2626G>C	ENSP00000513205.1:p.Ala876Pro
XM_011544031.1:c.10654G>C	XP_011542333.1:p.Ala3552Pro
XM_011544032.1:c.10654G>C	XP_011542334.1:p.Ala3552Pro
XM_011544033.1:c.10654G>C	XP_011542335.1:p.Ala3552Pro
XM_011544033.2:c.10654G>C	XP_011542335.1:p.Ala3552Pro
XM_011544034.1:c.10516G>C	XP_011542336.1:p.Ala3506Pro
XM_011544036.1:c.8317G>C	XP_011542338.1:p.Ala2773Pro
XM_011544036.2:c.8317G>C	XP_011542338.1:p.Ala2773Pro
XM_017000150.1:c.10423G>C	XP_016855639.1:p.Ala3475Pro