Canonical Allele Identifier: CA10119384
Gene: LZTR1 HGNC NCBI
MyVariant.info:
GRCh38 chr22:g.20996947T>C
GRCh37 chr22:g.21351236T>C
Revel Score:
ENST00000539817 0.752
ENST00000215739 0.752
ENST00000389355 0.752
gnomAD v2:
22:21351236 T / C
gnomAD v3:
22:20996947 T / C
gnomAD v4:
chr22-20996947-T-C
Joint Max Group AF 0.00005875 (NFE)
Genomes Max Group AF 0.00002846 (NFE)
Exomes Max Group AF 0.00005797 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.20996947T>C , CM000684.2:g.20996947T>C GRCh38
NC_000022.10:g.21351236T>C , CM000684.1:g.21351236T>C GRCh37
NC_000022.9:g.19681236T>C NCBI36
NG_034193.1:g.19679T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000700578.1:c.2325+146T>C ENSP00000515073.1:n.2325+146T>C
ENST00000415817.2:c.816T>C
ENST00000495142.6:n.2739T>C
ENST00000642151.1:c.2218T>C
ENST00000643578.1:n.2409T>C
ENST00000643710.1:n.1248T>C
ENST00000646124.2:c.2387T>C MANE Select ENSP00000496779.1:p.Ile796Thr
ENST00000646506.1:n.2254T>C
ENST00000215739.12:c.2387T>C ENSP00000215739.8:p.Ile796Thr
ENST00000415817.1:c.285T>C
ENST00000452988.5:c.549T>C ENSP00000408789.1:n.549T>C
ENST00000463909.1:n.1685T>C
ENST00000479606.5:n.2533T>C
ENST00000498649.1:n.487T>C
NM_006767.3:c.2387T>C NP_006758.2:p.Ile796Thr
NM_006767.4:c.2387T>C MANE Select NP_006758.2:p.Ile796Thr
Search 100 bp 5'
Search 100 bp 3'