Canonical Allele Identifier: CA517529687
Gene: BTK HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.100608281G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101353293G>A , CM000685.2:g.101353293G>A GRCh38
NC_000023.10:g.100608281G>A , CM000685.1:g.100608281G>A GRCh37
NC_000023.9:g.100494937G>A NCBI36
NG_009616.1:g.37932C>T , LRG_128:g.37932C>T
NG_011734.1:g.677C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000478995.2:n.3326C>T
ENST00000488970.2:n.3965C>T
ENST00000695614.1:c.1809C>T ENSP00000512053.1:p.Asn603=
ENST00000695615.1:c.1809C>T ENSP00000512054.1:p.Asn603=
ENST00000695616.1:c.*1654C>T ENSP00000512055.1:n.*1654C>T
ENST00000695617.1:c.1806C>T ENSP00000512056.1:p.Asn602=
ENST00000695618.1:c.*1558C>T ENSP00000512058.1:n.*1558C>T
ENST00000695619.1:c.*1519C>T ENSP00000512059.1:n.*1519C>T
ENST00000695620.1:c.*1735C>T ENSP00000512060.1:n.*1735C>T
ENST00000695621.1:c.*234C>T ENSP00000512061.1:n.*234C>T
ENST00000695622.1:c.1746C>T ENSP00000512062.1:p.Asn582=
ENST00000695623.1:c.1803C>T ENSP00000512063.1:p.Asn601=
ENST00000695624.1:n.1114C>T
ENST00000695625.1:c.1809C>T ENSP00000512064.1:p.Asn603=
ENST00000695626.1:c.564C>T ENSP00000512065.1:n.564C>T
ENST00000695627.1:c.757C>T ENSP00000512066.1:n.757C>T
ENST00000695628.1:c.368C>T ENSP00000512067.1:n.368C>T
ENST00000695629.1:c.249C>T ENSP00000512068.1:p.Asn83=
ENST00000695630.1:c.536C>T
ENST00000695631.1:c.115-45C>T
ENST00000703407.1:c.1281C>T ENSP00000512057.1:p.Asn427=
ENST00000308731.8:c.1809C>T MANE Select ENSP00000308176.8:p.Asn603=
ENST00000308731.7:c.1809C>T ENSP00000308176.7:p.Asn603=
ENST00000372880.5:c.1281C>T ENSP00000361971.1:p.Asn427=
ENST00000470069.1:n.174C>T
ENST00000618050.4:c.1808C>T ENSP00000479125.1:n.1808C>T
ENST00000621635.4:c.1911C>T ENSP00000483570.1:p.Asn637=
NM_000061.2:c.1809C>T , LRG_128t1:c.1809C>T NP_000052.1:p.Asn603=
NM_001287344.1:c.1911C>T NP_001274273.1:p.Asn637=
NM_001287345.1:c.1281C>T NP_001274274.1:p.Asn427=
NM_000061.3:c.1809C>T MANE Select NP_000052.1:p.Asn603=
NM_001287344.2:c.1911C>T NP_001274273.1:p.Asn637=
NM_001287345.2:c.1281C>T NP_001274274.1:p.Asn427=