Canonical Allele Identifier: CA205722

Gene: LYST

Linked Data

• ClinVar Variation Id: 211411
• ClinVar RCV Id: RCV000192717 ; RCV000329381 ; RCV001354479 ; RCV002262789 ; RCV003917758 ; RCV004020323
• dbSNP Id: rs138443479
• ExAC: 1:235922443 T / G
• gnomAD v2: 1-235922443-T-G
• gnomAD v3: 1-235759143-T-G
• gnomAD v4: 1-235759143-T-G
• MyVariant Identifiers: chr1:g.235922443T>G (hg19) ; chr1:g.235759143T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.235759143T>G , CM000663.2:g.235759143T>G	GRCh38
NC_000001.10:g.235922443T>G , CM000663.1:g.235922443T>G	GRCh37
NC_000001.9:g.233989066T>G	NCBI36
NG_007397.1:g.129498A>C , LRG_143:g.129498A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461526.2:c.1385A>C	ENSP00000513165.1:p.Gln462Pro
ENST00000697178.1:c.*2134A>C	ENSP00000513163.1:n.*2134A>C
ENST00000697236.1:c.419A>C	ENSP00000513203.1:p.Gln140Pro
ENST00000697241.1:c.1142A>C	ENSP00000513206.1:p.Gln381Pro
ENST00000389793.7:c.6710A>C MANE Select	ENSP00000374443.2:p.Gln2237Pro
ENST00000389793.6:c.6710A>C	ENSP00000374443.2:p.Gln2237Pro
ENST00000389794.7:c.*2134A>C	ENSP00000374444.4:n.*2134A>C
NM_000081.3:c.6710A>C , LRG_143t1:c.6710A>C	NP_000072.2:p.Gln2237Pro
NM_001301365.1:c.6710A>C , LRG_143t2:c.6710A>C	NP_001288294.1:p.Gln2237Pro
XM_011544031.1:c.6710A>C	XP_011542333.1:p.Gln2237Pro
XM_011544032.1:c.6710A>C	XP_011542334.1:p.Gln2237Pro
XM_011544033.1:c.6710A>C	XP_011542335.1:p.Gln2237Pro
XM_011544034.1:c.6572A>C	XP_011542336.1:p.Gln2191Pro
XM_011544035.1:c.6710A>C	XP_011542337.1:p.Gln2237Pro
XM_011544036.1:c.4373A>C	XP_011542338.1:p.Gln1458Pro
XM_011544037.1:c.6710A>C	XP_011542339.1:p.Gln2237Pro
XM_011544038.1:c.6710A>C	XP_011542340.1:p.Gln2237Pro
XM_011544039.1:c.6710A>C	XP_011542341.1:p.Gln2237Pro
XM_011544033.2:c.6710A>C	XP_011542335.1:p.Gln2237Pro
XM_011544035.2:c.6710A>C	XP_011542337.1:p.Gln2237Pro
XM_011544036.2:c.4373A>C	XP_011542338.1:p.Gln1458Pro
XM_011544037.2:c.6710A>C	XP_011542339.1:p.Gln2237Pro
XM_011544039.2:c.6710A>C	XP_011542341.1:p.Gln2237Pro
XM_017000150.1:c.6710A>C	XP_016855639.1:p.Gln2237Pro
XR_001736946.2:n.6892A>C
XR_001736947.1:n.6892A>C
XR_001736948.1:n.6892A>C
NM_000081.4:c.6710A>C MANE Select	NP_000072.2:p.Gln2237Pro