Canonical Allele Identifier: CA39754720

Gene: LYST

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.235664022T>C , CM000663.2:g.235664022T>C	GRCh38
NC_000001.10:g.235827322T>C , CM000663.1:g.235827322T>C	GRCh37
NC_000001.9:g.233893945T>C	NCBI36
NG_007397.1:g.224619A>G , LRG_143:g.224619A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000081.4:c.11229A>G MANE Select	NP_000072.2:p.Arg3743=
ENST00000389793.7:c.11229A>G MANE Select	ENSP00000374443.2:p.Arg3743=
NM_000081.3:c.11229A>G , LRG_143t1:c.11229A>G	NP_000072.2:p.Arg3743=
NM_001301365.1:c.11229A>G , LRG_143t2:c.11229A>G	NP_001288294.1:p.Arg3743=
ENST00000389793.6:c.11229A>G	ENSP00000374443.2:p.Arg3743=
ENST00000389794.7:c.*6653A>G	ENSP00000374444.4:n.*6653A>G
ENST00000462376.2:n.3048A>G
ENST00000473037.5:n.6219A>G
ENST00000697178.1:c.*7215A>G	ENSP00000513163.1:n.*7215A>G
ENST00000697235.1:c.1779A>G	ENSP00000513202.1:p.Arg593=
ENST00000697236.1:c.4693A>G	ENSP00000513203.1:n.4693A>G
ENST00000697237.1:c.1940A>G
ENST00000697238.1:n.383A>G
ENST00000697239.1:n.623A>G
ENST00000697240.1:c.3296A>G	ENSP00000513205.1:n.3296A>G
XM_011544031.1:c.11391A>G	XP_011542333.1:p.Arg3797=
XM_011544032.1:c.11391A>G	XP_011542334.1:p.Arg3797=
XM_011544033.1:c.11391A>G	XP_011542335.1:p.Arg3797=
XM_011544033.2:c.11391A>G	XP_011542335.1:p.Arg3797=
XM_011544034.1:c.11253A>G	XP_011542336.1:p.Arg3751=
XM_011544036.1:c.9054A>G	XP_011542338.1:p.Arg3018=
XM_011544036.2:c.9054A>G	XP_011542338.1:p.Arg3018=
XM_017000150.1:c.11160A>G	XP_016855639.1:p.Arg3720=