Canonical Allele Identifier: CA10118451
Gene: LZTR1 HGNC NCBI
MyVariant.info:
GRCh38 chr22:g.20988118G>A
GRCh37 chr22:g.21342407G>A
Revel Score:
ENST00000539817 0.694
ENST00000215739 0.694
ENST00000389355 0.694
gnomAD v2:
22:21342407 G / A
gnomAD v3:
22:20988118 G / A
gnomAD v4:
chr22-20988118-G-A
Joint Max Group AF 0.00000967 (NFE)
Genomes Max Group AF 0.000008 (AFR)
Exomes Max Group AF 0.00001027 (NFE)
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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
Search 100 bp 5'
Search 100 bp 3'