Canonical Allele Identifier: CA413922927
Community Standard Title: NM_000061.3(BTK):c.1563C>A (p.Asp521Glu)
Gene: BTK HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101356055G>T , CM000685.2:g.101356055G>T GRCh38
NC_000023.10:g.100611043G>T , CM000685.1:g.100611043G>T GRCh37
NC_000023.9:g.100497699G>T NCBI36
NG_009616.1:g.35170C>A , LRG_128:g.35170C>A

Transcript Alleles

HGVS Amino-acid Change
NM_000061.3:c.1563C>A MANE Select NP_000052.1:p.Asp521Glu
ENST00000308731.8:c.1563C>A MANE Select ENSP00000308176.8:p.Asp521Glu
NM_000061.2:c.1563C>A , LRG_128t1:c.1563C>A NP_000052.1:p.Asp521Glu
NM_001287344.1:c.1665C>A NP_001274273.1:p.Asp555Glu
NM_001287344.2:c.1665C>A NP_001274273.1:p.Asp555Glu
NM_001287345.1:c.1039-1361C>A NP_001274274.1:n.1039-1361C>A
NM_001287345.2:c.1039-1361C>A NP_001274274.1:n.1039-1361C>A
ENST00000308731.7:c.1563C>A ENSP00000308176.7:p.Asp521Glu
ENST00000372880.5:c.1039-1361C>A ENSP00000361971.1:n.1039-1361C>A
ENST00000478995.1:n.235C>A
ENST00000478995.2:n.1723C>A
ENST00000488970.2:n.1721C>A
ENST00000618050.4:c.1563C>A ENSP00000479125.1:p.Asp521Glu
ENST00000621635.4:c.1665C>A ENSP00000483570.1:p.Asp555Glu
ENST00000695614.1:c.1563C>A ENSP00000512053.1:p.Asp521Glu
ENST00000695615.1:c.1563C>A ENSP00000512054.1:p.Asp521Glu
ENST00000695616.1:c.*1408C>A ENSP00000512055.1:n.*1408C>A
ENST00000695617.1:c.1560C>A ENSP00000512056.1:p.Asp520Glu
ENST00000695618.1:c.*1312C>A ENSP00000512058.1:n.*1312C>A
ENST00000695619.1:c.*1273C>A ENSP00000512059.1:n.*1273C>A
ENST00000695620.1:c.*1489C>A ENSP00000512060.1:n.*1489C>A
ENST00000695621.1:c.1563C>A ENSP00000512061.1:p.Asp521Glu
ENST00000695622.1:c.1500C>A ENSP00000512062.1:p.Asp500Glu
ENST00000695623.1:c.1557C>A ENSP00000512063.1:p.Asp519Glu
ENST00000695624.1:n.868C>A
ENST00000695625.1:c.1563C>A ENSP00000512064.1:p.Asp521Glu
ENST00000695626.1:c.321+729C>A ENSP00000512065.1:n.321+729C>A
ENST00000695627.1:c.576C>A ENSP00000512066.1:p.Asp192Glu
ENST00000695628.1:c.190+1454C>A ENSP00000512067.1:n.190+1454C>A
ENST00000695629.1:c.190+1454C>A ENSP00000512068.1:n.190+1454C>A
ENST00000695630.1:c.358+729C>A
ENST00000695631.1:c.114+2255C>A
ENST00000695632.1:n.366+729C>A
ENST00000703407.1:c.1039-1361C>A ENSP00000512057.1:n.1039-1361C>A