Canonical Allele Identifier: CA1465547

Gene: LYST

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.235716723C>G , CM000663.2:g.235716723C>G	GRCh38
NC_000001.10:g.235880023C>G , CM000663.1:g.235880023C>G	GRCh37
NC_000001.9:g.233946646C>G	NCBI36
NG_007397.1:g.171918G>C , LRG_143:g.171918G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000081.4:c.9616G>C MANE Select	NP_000072.2:p.Asp3206His
ENST00000389793.7:c.9616G>C MANE Select	ENSP00000374443.2:p.Asp3206His
NM_000081.3:c.9616G>C , LRG_143t1:c.9616G>C	NP_000072.2:p.Asp3206His
NM_001301365.1:c.9616G>C , LRG_143t2:c.9616G>C	NP_001288294.1:p.Asp3206His
ENST00000389793.6:c.9616G>C	ENSP00000374443.2:p.Asp3206His
ENST00000389794.7:c.*5040G>C	ENSP00000374444.4:n.*5040G>C
ENST00000461526.2:c.5144G>C	ENSP00000513165.1:n.5144G>C
ENST00000473037.5:n.4606G>C
ENST00000475277.1:n.482G>C
ENST00000475277.2:c.1711G>C	ENSP00000513164.1:p.Asp571His
ENST00000697178.1:c.*5311G>C	ENSP00000513163.1:n.*5311G>C
ENST00000697235.1:c.166G>C	ENSP00000513202.1:p.Asp56His
ENST00000697236.1:c.3080G>C	ENSP00000513203.1:n.3080G>C
ENST00000697237.1:c.572G>C
ENST00000697240.1:c.1750G>C	ENSP00000513205.1:p.Asp584His
ENST00000697241.1:c.4096G>C	ENSP00000513206.1:p.Asp1366His
XM_011544031.1:c.9778G>C	XP_011542333.1:p.Asp3260His
XM_011544032.1:c.9778G>C	XP_011542334.1:p.Asp3260His
XM_011544033.1:c.9778G>C	XP_011542335.1:p.Asp3260His
XM_011544033.2:c.9778G>C	XP_011542335.1:p.Asp3260His
XM_011544034.1:c.9640G>C	XP_011542336.1:p.Asp3214His
XM_011544035.1:c.9778G>C	XP_011542337.1:p.Asp3260His
XM_011544035.2:c.9778G>C	XP_011542337.1:p.Asp3260His
XM_011544036.1:c.7441G>C	XP_011542338.1:p.Asp2481His
XM_011544036.2:c.7441G>C	XP_011542338.1:p.Asp2481His
XM_017000150.1:c.9778G>C	XP_016855639.1:p.Asp3260His
XR_001736947.1:n.10651G>C