Canonical Allele Identifier: CA170605
Gene: LZTFL1 HGNC NCBI

Linked Data

ClinVar Variation Id: 126380
dbSNP Id: rs515726135
gnomAD v4: 3-45835653-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.45835653A>G , CM000665.2:g.45835653A>G GRCh38
NC_000003.11:g.45877145A>G , CM000665.1:g.45877145A>G GRCh37
NC_000003.10:g.45852149A>G NCBI36
NG_033917.1:g.85072T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000490463.6:c.209T>C ENSP00000506299.2:p.Leu70Pro
ENST00000699186.1:n.193T>C
ENST00000699187.1:c.260T>C ENSP00000514188.1:p.Leu87Pro
ENST00000684620.1:c.209T>C ENSP00000506925.1:p.Leu70Pro
ENST00000296135.11:c.260T>C MANE Select ENSP00000296135.6:p.Leu87Pro
ENST00000418700.6:c.*241T>C ENSP00000416427.2:n.*241T>C
ENST00000296135.10:c.260T>C ENSP00000296135.6:p.Leu87Pro
ENST00000411866.5:c.106T>C ENSP00000397589.1:p.Cys36Arg
ENST00000418700.5:c.*275T>C ENSP00000416427.1:n.*275T>C
ENST00000440576.2:c.132T>C
ENST00000445698.1:c.209T>C ENSP00000412240.1:p.Leu70Pro
ENST00000448111.5:c.*150T>C ENSP00000400177.1:n.*150T>C
ENST00000469874.5:n.145T>C
ENST00000480156.5:n.405T>C
ENST00000490463.5:n.423T>C
ENST00000495864.5:n.414T>C
ENST00000536047.5:c.209T>C ENSP00000439522.1:p.Leu70Pro
ENST00000539217.5:c.248T>C ENSP00000441784.1:p.Leu83Pro
NM_001276378.1:c.209T>C NP_001263307.1:p.Leu70Pro
NM_001276379.1:c.248T>C NP_001263308.1:p.Leu83Pro
NM_020347.3:c.260T>C NP_065080.1:p.Leu87Pro
NR_075080.1:n.302T>C
XM_006713207.2:c.260T>C XP_006713270.2:p.Leu87Pro
XM_011533838.1:c.209T>C XP_011532140.1:p.Leu70Pro
XM_011533839.1:c.290T>C XP_011532141.1:p.Leu97Pro
XM_006713207.3:c.260T>C XP_006713270.2:p.Leu87Pro
XM_011533838.2:c.209T>C XP_011532140.1:p.Leu70Pro
XM_017006645.2:c.287T>C XP_016862134.1:p.Leu96Pro
NM_020347.4:c.260T>C MANE Select NP_065080.1:p.Leu87Pro
NR_075080.2:n.263T>C
NM_001276378.2:c.209T>C NP_001263307.1:p.Leu70Pro
NM_001276379.2:c.248T>C NP_001263308.1:p.Leu83Pro
NM_001386451.1:c.209T>C NP_001373380.1:p.Leu70Pro
NM_001386452.1:c.260T>C NP_001373381.1:p.Leu87Pro