Canonical Allele Identifier: CA10603524
Gene: BTK HGNC NCBI

Linked Data

ClinVar Variation Id: 279714
dbSNP Id: rs886041149

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101354688G>A , CM000685.2:g.101354688G>A GRCh38
NC_000023.10:g.100609676G>A , CM000685.1:g.100609676G>A GRCh37
NC_000023.9:g.100496332G>A NCBI36
NG_009616.1:g.36537C>T , LRG_128:g.36537C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000478995.2:n.3090C>T
ENST00000488970.2:n.3088C>T
ENST00000695614.1:c.1573C>T ENSP00000512053.1:p.Arg525Ter
ENST00000695615.1:c.1573C>T ENSP00000512054.1:p.Arg525Ter
ENST00000695616.1:c.*1418C>T ENSP00000512055.1:n.*1418C>T
ENST00000695617.1:c.1570C>T ENSP00000512056.1:p.Arg524Ter
ENST00000695618.1:c.*1322C>T ENSP00000512058.1:n.*1322C>T
ENST00000695619.1:c.*1283C>T ENSP00000512059.1:n.*1283C>T
ENST00000695620.1:c.*1499C>T ENSP00000512060.1:n.*1499C>T
ENST00000695621.1:c.1573C>T ENSP00000512061.1:p.Arg525Ter
ENST00000695622.1:c.1510C>T ENSP00000512062.1:p.Arg504Ter
ENST00000695623.1:c.1567C>T ENSP00000512063.1:p.Arg523Ter
ENST00000695624.1:n.878C>T
ENST00000695625.1:c.1573C>T ENSP00000512064.1:p.Arg525Ter
ENST00000695626.1:c.328C>T ENSP00000512065.1:n.328C>T
ENST00000695627.1:c.580-700C>T ENSP00000512066.1:n.580-700C>T
ENST00000695628.1:c.191-700C>T ENSP00000512067.1:n.191-700C>T
ENST00000695629.1:c.191-1337C>T ENSP00000512068.1:n.191-1337C>T
ENST00000695630.1:c.359-700C>T
ENST00000695631.1:c.115-1440C>T
ENST00000695632.1:n.373C>T
ENST00000703407.1:c.1045C>T ENSP00000512057.1:p.Arg349Ter
ENST00000308731.8:c.1573C>T MANE Select ENSP00000308176.8:p.Arg525Ter
ENST00000308731.7:c.1573C>T ENSP00000308176.7:p.Arg525Ter
ENST00000372880.5:c.1045C>T ENSP00000361971.1:p.Arg349Ter
ENST00000618050.4:c.1573C>T ENSP00000479125.1:p.Arg525Ter
ENST00000621635.4:c.1675C>T ENSP00000483570.1:p.Arg559Ter
NM_000061.2:c.1573C>T , LRG_128t1:c.1573C>T NP_000052.1:p.Arg525Ter
NM_001287344.1:c.1675C>T NP_001274273.1:p.Arg559Ter
NM_001287345.1:c.1045C>T NP_001274274.1:p.Arg349Ter
NM_000061.3:c.1573C>T MANE Select NP_000052.1:p.Arg525Ter
NM_001287344.2:c.1675C>T NP_001274273.1:p.Arg559Ter
NM_001287345.2:c.1045C>T NP_001274274.1:p.Arg349Ter