Canonical Allele Identifier: CA410774186
Gene: LZTR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2199322
ClinVar RCV Id: RCV002659622
dbSNP Id: rs1168913250
gnomAD v3: 22-20992904-G-C
gnomAD v4: 22-20992904-G-C
MyVariant Identifiers: chr22:g.21347193G>C (hg19) chr22:g.20992904G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.20992904G>C , CM000684.2:g.20992904G>C GRCh38
NC_000022.10:g.21347193G>C , CM000684.1:g.21347193G>C GRCh37
NC_000022.9:g.19677193G>C NCBI36
NG_034193.1:g.15636G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000700578.1:c.1260G>C ENSP00000515073.1:p.Gln420His
ENST00000495142.6:n.605G>C
ENST00000642151.1:c.1091G>C
ENST00000643578.1:n.1282G>C
ENST00000646124.2:c.1260G>C MANE Select ENSP00000496779.1:p.Gln420His
ENST00000646506.1:n.839G>C
ENST00000215739.12:c.1260G>C ENSP00000215739.8:p.Gln420His
ENST00000479606.5:n.1406G>C
ENST00000492480.1:n.309+7G>C
NM_006767.3:c.1260G>C NP_006758.2:p.Gln420His
NM_006767.4:c.1260G>C MANE Select NP_006758.2:p.Gln420His
Search 100 bp 5'
Search 100 bp 3'