Canonical Allele Identifier: CA358852
Gene: LZTR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 209088
ClinVar RCV Id: RCV000191027 RCV000413889 RCV001526613 RCV000763072 RCV002381647 RCV004525835 RCV003988835
dbSNP Id: rs869320686
gnomAD v2: 22-21344765-G-A
gnomAD v4: 22-20990476-G-A
COSMIC: COSM298114
MyVariant Identifiers: chr22:g.21344765G>A (hg19) chr22:g.20990476G>A (hg38)
ERepo: CA358852/MONDO:0021060/094
PubMed: PMID:16356934 PMID:18072270 PMID:19582488 PMID:22105938 PMID:23401320 PMID:24362817 PMID:25335493 PMID:25480913 PMID:25795793 PMID:26785492 PMID:27472264 PMID:27856782 PMID:28295212
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.20990476G>A , CM000684.2:g.20990476G>A GRCh38
NC_000022.10:g.21344765G>A , CM000684.1:g.21344765G>A GRCh37
NC_000022.9:g.19674765G>A NCBI36
NG_034193.1:g.13208G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000700578.1:c.742G>A ENSP00000515073.1:p.Gly248Arg
ENST00000642151.1:c.573G>A
ENST00000646124.2:c.742G>A MANE Select ENSP00000496779.1:p.Gly248Arg
ENST00000646506.1:n.321G>A
ENST00000215739.12:c.742G>A ENSP00000215739.8:p.Gly248Arg
ENST00000414985.5:c.*308G>A ENSP00000397247.1:n.*308G>A
ENST00000479606.5:n.888G>A
ENST00000480895.1:n.438G>A
ENST00000497716.5:n.125G>A
NM_006767.3:c.742G>A NP_006758.2:p.Gly248Arg
NM_006767.4:c.742G>A MANE Select NP_006758.2:p.Gly248Arg
Search 100 bp 5'
Search 100 bp 3'