Canonical Allele Identifier: CA413923535
Community Standard Title: NM_000061.3(BTK):c.1513G>T (p.Val505Phe)
Gene: BTK HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101356105C>A , CM000685.2:g.101356105C>A GRCh38
NC_000023.10:g.100611093C>A , CM000685.1:g.100611093C>A GRCh37
NC_000023.9:g.100497749C>A NCBI36
NG_009616.1:g.35120G>T , LRG_128:g.35120G>T

Transcript Alleles

HGVS Amino-acid Change
NM_000061.3:c.1513G>T MANE Select NP_000052.1:p.Val505Phe
ENST00000308731.8:c.1513G>T MANE Select ENSP00000308176.8:p.Val505Phe
NM_000061.2:c.1513G>T , LRG_128t1:c.1513G>T NP_000052.1:p.Val505Phe
NM_001287344.1:c.1615G>T NP_001274273.1:p.Val539Phe
NM_001287344.2:c.1615G>T NP_001274273.1:p.Val539Phe
NM_001287345.1:c.1039-1411G>T NP_001274274.1:n.1039-1411G>T
NM_001287345.2:c.1039-1411G>T NP_001274274.1:n.1039-1411G>T
ENST00000308731.7:c.1513G>T ENSP00000308176.7:p.Val505Phe
ENST00000372880.5:c.1039-1411G>T ENSP00000361971.1:n.1039-1411G>T
ENST00000478995.1:n.185G>T
ENST00000478995.2:n.1673G>T
ENST00000488970.2:n.1671G>T
ENST00000618050.4:c.1513G>T ENSP00000479125.1:p.Val505Phe
ENST00000621635.4:c.1615G>T ENSP00000483570.1:p.Val539Phe
ENST00000695614.1:c.1513G>T ENSP00000512053.1:p.Val505Phe
ENST00000695615.1:c.1513G>T ENSP00000512054.1:p.Val505Phe
ENST00000695616.1:c.*1358G>T ENSP00000512055.1:n.*1358G>T
ENST00000695617.1:c.1510G>T ENSP00000512056.1:p.Val504Phe
ENST00000695618.1:c.*1262G>T ENSP00000512058.1:n.*1262G>T
ENST00000695619.1:c.*1223G>T ENSP00000512059.1:n.*1223G>T
ENST00000695620.1:c.*1439G>T ENSP00000512060.1:n.*1439G>T
ENST00000695621.1:c.1513G>T ENSP00000512061.1:p.Val505Phe
ENST00000695622.1:c.1450G>T ENSP00000512062.1:p.Val484Phe
ENST00000695623.1:c.1507G>T ENSP00000512063.1:p.Val503Phe
ENST00000695624.1:n.818G>T
ENST00000695625.1:c.1513G>T ENSP00000512064.1:p.Val505Phe
ENST00000695626.1:c.321+679G>T ENSP00000512065.1:n.321+679G>T
ENST00000695627.1:c.526G>T ENSP00000512066.1:p.Val176Phe
ENST00000695628.1:c.190+1404G>T ENSP00000512067.1:n.190+1404G>T
ENST00000695629.1:c.190+1404G>T ENSP00000512068.1:n.190+1404G>T
ENST00000695630.1:c.358+679G>T
ENST00000695631.1:c.114+2205G>T
ENST00000695632.1:n.366+679G>T
ENST00000703407.1:c.1039-1411G>T ENSP00000512057.1:n.1039-1411G>T