Canonical Allele Identifier: CA413924621
Community Standard Title: NM_000061.3(BTK):c.1355T>C (p.Leu452Pro)
Gene: BTK HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101356263A>G , CM000685.2:g.101356263A>G GRCh38
NC_000023.10:g.100611251A>G , CM000685.1:g.100611251A>G GRCh37
NC_000023.9:g.100497907A>G NCBI36
NG_009616.1:g.34962T>C , LRG_128:g.34962T>C

Transcript Alleles

HGVS Amino-acid Change
NM_000061.3:c.1355T>C MANE Select NP_000052.1:p.Leu452Pro
ENST00000308731.8:c.1355T>C MANE Select ENSP00000308176.8:p.Leu452Pro
NM_000061.2:c.1355T>C , LRG_128t1:c.1355T>C NP_000052.1:p.Leu452Pro
NM_001287344.1:c.1457T>C NP_001274273.1:p.Leu486Pro
NM_001287344.2:c.1457T>C NP_001274273.1:p.Leu486Pro
NM_001287345.1:c.1039-1569T>C NP_001274274.1:n.1039-1569T>C
NM_001287345.2:c.1039-1569T>C NP_001274274.1:n.1039-1569T>C
ENST00000308731.7:c.1355T>C ENSP00000308176.7:p.Leu452Pro
ENST00000372880.5:c.1039-1569T>C ENSP00000361971.1:n.1039-1569T>C
ENST00000478995.1:n.27T>C
ENST00000478995.2:n.1515T>C
ENST00000488970.2:n.1513T>C
ENST00000618050.4:c.1355T>C ENSP00000479125.1:p.Leu452Pro
ENST00000621635.4:c.1457T>C ENSP00000483570.1:p.Leu486Pro
ENST00000695614.1:c.1355T>C ENSP00000512053.1:p.Leu452Pro
ENST00000695615.1:c.1355T>C ENSP00000512054.1:p.Leu452Pro
ENST00000695616.1:c.*1200T>C ENSP00000512055.1:n.*1200T>C
ENST00000695617.1:c.1352T>C ENSP00000512056.1:p.Leu451Pro
ENST00000695618.1:c.*1104T>C ENSP00000512058.1:n.*1104T>C
ENST00000695619.1:c.*1065T>C ENSP00000512059.1:n.*1065T>C
ENST00000695620.1:c.*1281T>C ENSP00000512060.1:n.*1281T>C
ENST00000695621.1:c.1355T>C ENSP00000512061.1:p.Leu452Pro
ENST00000695622.1:c.1292T>C ENSP00000512062.1:p.Leu431Pro
ENST00000695623.1:c.1349T>C ENSP00000512063.1:p.Leu450Pro
ENST00000695624.1:n.660T>C
ENST00000695625.1:c.1355T>C ENSP00000512064.1:p.Leu452Pro
ENST00000695626.1:c.321+521T>C ENSP00000512065.1:n.321+521T>C
ENST00000695627.1:c.368T>C ENSP00000512066.1:p.Leu123Pro
ENST00000695628.1:c.190+1246T>C ENSP00000512067.1:n.190+1246T>C
ENST00000695629.1:c.190+1246T>C ENSP00000512068.1:n.190+1246T>C
ENST00000695630.1:c.358+521T>C
ENST00000695631.1:c.114+2047T>C
ENST00000695632.1:n.366+521T>C
ENST00000703407.1:c.1039-1569T>C ENSP00000512057.1:n.1039-1569T>C