Canonical Allele Identifier: CA413918555
Gene: BTK HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101353219G>T , CM000685.2:g.101353219G>T GRCh38
NC_000023.10:g.100608207G>T , CM000685.1:g.100608207G>T GRCh37
NC_000023.9:g.100494863G>T NCBI36
NG_009616.1:g.38006C>A , LRG_128:g.38006C>A
NG_011734.1:g.751C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000478995.2:n.3400C>A
ENST00000488970.2:n.4039C>A
ENST00000695614.1:c.1883C>A ENSP00000512053.1:p.Thr628Asn
ENST00000695615.1:c.1883C>A ENSP00000512054.1:p.Thr628Asn
ENST00000695616.1:c.*1728C>A ENSP00000512055.1:n.*1728C>A
ENST00000695617.1:c.1880C>A ENSP00000512056.1:p.Thr627Asn
ENST00000695618.1:c.*1632C>A ENSP00000512058.1:n.*1632C>A
ENST00000695619.1:c.*1593C>A ENSP00000512059.1:n.*1593C>A
ENST00000695620.1:c.*1809C>A ENSP00000512060.1:n.*1809C>A
ENST00000695621.1:c.*308C>A ENSP00000512061.1:n.*308C>A
ENST00000695622.1:c.1820C>A ENSP00000512062.1:p.Thr607Asn
ENST00000695623.1:c.1877C>A ENSP00000512063.1:p.Thr626Asn
ENST00000695624.1:n.1188C>A
ENST00000695625.1:c.1875+8C>A ENSP00000512064.1:n.1875+8C>A
ENST00000695626.1:c.638C>A ENSP00000512065.1:n.638C>A
ENST00000695627.1:c.831C>A ENSP00000512066.1:n.831C>A
ENST00000695628.1:c.442C>A ENSP00000512067.1:n.442C>A
ENST00000695629.1:c.323C>A ENSP00000512068.1:p.Thr108Asn
ENST00000695630.1:c.610C>A
ENST00000695631.1:c.144C>A
ENST00000703407.1:c.1355C>A ENSP00000512057.1:p.Thr452Asn
ENST00000308731.8:c.1883C>A MANE Select ENSP00000308176.8:p.Thr628Asn
ENST00000308731.7:c.1883C>A ENSP00000308176.7:p.Thr628Asn
ENST00000372880.5:c.1355C>A ENSP00000361971.1:p.Thr452Asn
ENST00000470069.1:n.248C>A
ENST00000618050.4:c.1882C>A ENSP00000479125.1:n.1882C>A
ENST00000621635.4:c.1985C>A ENSP00000483570.1:p.Thr662Asn
NM_000061.2:c.1883C>A , LRG_128t1:c.1883C>A NP_000052.1:p.Thr628Asn
NM_001287344.1:c.1985C>A NP_001274273.1:p.Thr662Asn
NM_001287345.1:c.1355C>A NP_001274274.1:p.Thr452Asn
NM_000061.3:c.1883C>A MANE Select NP_000052.1:p.Thr628Asn
NM_001287344.2:c.1985C>A NP_001274273.1:p.Thr662Asn
NM_001287345.2:c.1355C>A NP_001274274.1:p.Thr452Asn