Canonical Allele Identifier: CA413923311
Community Standard Title: NM_000061.3(BTK):c.1535T>C (p.Leu512Pro)
Gene: BTK HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101356083A>G , CM000685.2:g.101356083A>G GRCh38
NC_000023.10:g.100611071A>G , CM000685.1:g.100611071A>G GRCh37
NC_000023.9:g.100497727A>G NCBI36
NG_009616.1:g.35142T>C , LRG_128:g.35142T>C

Transcript Alleles

HGVS Amino-acid Change
NM_000061.3:c.1535T>C MANE Select NP_000052.1:p.Leu512Pro
ENST00000308731.8:c.1535T>C MANE Select ENSP00000308176.8:p.Leu512Pro
NM_000061.2:c.1535T>C , LRG_128t1:c.1535T>C NP_000052.1:p.Leu512Pro
NM_001287344.1:c.1637T>C NP_001274273.1:p.Leu546Pro
NM_001287344.2:c.1637T>C NP_001274273.1:p.Leu546Pro
NM_001287345.1:c.1039-1389T>C NP_001274274.1:n.1039-1389T>C
NM_001287345.2:c.1039-1389T>C NP_001274274.1:n.1039-1389T>C
ENST00000308731.7:c.1535T>C ENSP00000308176.7:p.Leu512Pro
ENST00000372880.5:c.1039-1389T>C ENSP00000361971.1:n.1039-1389T>C
ENST00000478995.1:n.207T>C
ENST00000478995.2:n.1695T>C
ENST00000488970.2:n.1693T>C
ENST00000618050.4:c.1535T>C ENSP00000479125.1:p.Leu512Pro
ENST00000621635.4:c.1637T>C ENSP00000483570.1:p.Leu546Pro
ENST00000695614.1:c.1535T>C ENSP00000512053.1:p.Leu512Pro
ENST00000695615.1:c.1535T>C ENSP00000512054.1:p.Leu512Pro
ENST00000695616.1:c.*1380T>C ENSP00000512055.1:n.*1380T>C
ENST00000695617.1:c.1532T>C ENSP00000512056.1:p.Leu511Pro
ENST00000695618.1:c.*1284T>C ENSP00000512058.1:n.*1284T>C
ENST00000695619.1:c.*1245T>C ENSP00000512059.1:n.*1245T>C
ENST00000695620.1:c.*1461T>C ENSP00000512060.1:n.*1461T>C
ENST00000695621.1:c.1535T>C ENSP00000512061.1:p.Leu512Pro
ENST00000695622.1:c.1472T>C ENSP00000512062.1:p.Leu491Pro
ENST00000695623.1:c.1529T>C ENSP00000512063.1:p.Leu510Pro
ENST00000695624.1:n.840T>C
ENST00000695625.1:c.1535T>C ENSP00000512064.1:p.Leu512Pro
ENST00000695626.1:c.321+701T>C ENSP00000512065.1:n.321+701T>C
ENST00000695627.1:c.548T>C ENSP00000512066.1:p.Leu183Pro
ENST00000695628.1:c.190+1426T>C ENSP00000512067.1:n.190+1426T>C
ENST00000695629.1:c.190+1426T>C ENSP00000512068.1:n.190+1426T>C
ENST00000695630.1:c.358+701T>C
ENST00000695631.1:c.114+2227T>C
ENST00000695632.1:n.366+701T>C
ENST00000703407.1:c.1039-1389T>C ENSP00000512057.1:n.1039-1389T>C