Canonical Allele Identifier: CA204980
Gene: LZTR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 209089
ClinVar RCV Id: RCV000191028 RCV000658480 RCV000763073 RCV002444774 RCV003895239
dbSNP Id: rs797045165
gnomAD v2: 22-21345975-C-T
gnomAD v3: 22-20991686-C-T
gnomAD v4: 22-20991686-C-T
COSMIC: COSM1032415
MyVariant Identifiers: chr22:g.21345975C>T (hg19) chr22:g.20991686C>T (hg38)
PubMed: PMID:25795793
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.20991686C>T , CM000684.2:g.20991686C>T GRCh38
NC_000022.10:g.21345975C>T , CM000684.1:g.21345975C>T GRCh37
NC_000022.9:g.19675975C>T NCBI36
NG_034193.1:g.14418C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000700578.1:c.850C>T ENSP00000515073.1:p.Arg284Cys
ENST00000495142.6:n.195C>T
ENST00000642151.1:c.681C>T
ENST00000643578.1:n.872C>T
ENST00000646124.2:c.850C>T MANE Select ENSP00000496779.1:p.Arg284Cys
ENST00000646506.1:n.429C>T
ENST00000215739.12:c.850C>T ENSP00000215739.8:p.Arg284Cys
ENST00000479606.5:n.996C>T
ENST00000497716.5:n.677C>T
NM_006767.3:c.850C>T NP_006758.2:p.Arg284Cys
NM_006767.4:c.850C>T MANE Select NP_006758.2:p.Arg284Cys
Search 100 bp 5'
Search 100 bp 3'