Canonical Allele Identifier: CA10118269

Gene: LZTR1

Linked Data

• ClinVar Variation Id: 522164
• ClinVar RCV Id: RCV001055587 ; RCV002291680 ; RCV001199922 ; RCV002438612 ; RCV003465360
• dbSNP Id: rs756485244
• ExAC: 22:21336686 G / C
• gnomAD v2: 22-21336686-G-C
• gnomAD v3: 22-20982397-G-C
• gnomAD v4: 22-20982397-G-C
• MyVariant Identifiers: chr22:g.21336686G>C (hg19) ; chr22:g.20982397G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.20982397G>C , CM000684.2:g.20982397G>C	GRCh38
NC_000022.10:g.21336686G>C , CM000684.1:g.21336686G>C	GRCh37
NC_000022.9:g.19666686G>C	NCBI36
NG_034193.1:g.5129G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700578.1:c.26G>C	ENSP00000515073.1:p.Gly9Ala
ENST00000493460.2:n.101G>C
ENST00000645935.1:c.26G>C	ENSP00000493479.1:p.Gly9Ala
ENST00000646124.2:c.26G>C MANE Select	ENSP00000496779.1:p.Gly9Ala
ENST00000215739.12:c.26G>C	ENSP00000215739.8:p.Gly9Ala
ENST00000414985.5:c.26G>C	ENSP00000397247.1:p.Gly9Ala
ENST00000443265.5:c.26G>C	ENSP00000406466.1:p.Gly9Ala
ENST00000479606.5:n.347-630G>C
ENST00000493460.1:n.101G>C
NM_006767.3:c.26G>C	NP_006758.2:p.Gly9Ala
NM_006767.4:c.26G>C MANE Select	NP_006758.2:p.Gly9Ala