Canonical Allele Identifier: CA10118451

Gene: LZTR1

Linked Data

• ClinVar Variation Id: 420175
• ClinVar RCV Id: RCV000482299 ; RCV001542701 ; RCV002341137 ; RCV003991579 ; RCV004541521
• dbSNP Id: rs781431741
• ExAC: 22:21342407 G / A
• gnomAD v2: 22-21342407-G-A
• gnomAD v3: 22-20988118-G-A
• gnomAD v4: 22-20988118-G-A
• MyVariant Identifiers: chr22:g.21342407G>A (hg19) ; chr22:g.20988118G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.20988118G>A , CM000684.2:g.20988118G>A	GRCh38
NC_000022.10:g.21342407G>A , CM000684.1:g.21342407G>A	GRCh37
NC_000022.9:g.19672407G>A	NCBI36
NG_034193.1:g.10850G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700578.1:c.509G>A	ENSP00000515073.1:p.Arg170Gln
ENST00000642151.1:c.340G>A
ENST00000644435.1:c.415G>A
ENST00000646124.2:c.509G>A MANE Select	ENSP00000496779.1:p.Arg170Gln
ENST00000646506.1:n.88G>A
ENST00000215739.12:c.509G>A	ENSP00000215739.8:p.Arg170Gln
ENST00000414985.5:c.*75G>A	ENSP00000397247.1:n.*75G>A
ENST00000443265.5:c.*208G>A	ENSP00000406466.1:n.*208G>A
ENST00000479606.5:n.655G>A
ENST00000480895.1:n.205G>A
NM_006767.3:c.509G>A	NP_006758.2:p.Arg170Gln
NM_006767.4:c.509G>A MANE Select	NP_006758.2:p.Arg170Gln