Canonical Allele Identifier: CA517529648
Gene: BTK HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.100608257G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101353269G>C , CM000685.2:g.101353269G>C GRCh38
NC_000023.10:g.100608257G>C , CM000685.1:g.100608257G>C GRCh37
NC_000023.9:g.100494913G>C NCBI36
NG_009616.1:g.37956C>G , LRG_128:g.37956C>G
NG_011734.1:g.701C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000478995.2:n.3350C>G
ENST00000488970.2:n.3989C>G
ENST00000695614.1:c.1833C>G ENSP00000512053.1:p.Ala611=
ENST00000695615.1:c.1833C>G ENSP00000512054.1:p.Ala611=
ENST00000695616.1:c.*1678C>G ENSP00000512055.1:n.*1678C>G
ENST00000695617.1:c.1830C>G ENSP00000512056.1:p.Ala610=
ENST00000695618.1:c.*1582C>G ENSP00000512058.1:n.*1582C>G
ENST00000695619.1:c.*1543C>G ENSP00000512059.1:n.*1543C>G
ENST00000695620.1:c.*1759C>G ENSP00000512060.1:n.*1759C>G
ENST00000695621.1:c.*258C>G ENSP00000512061.1:n.*258C>G
ENST00000695622.1:c.1770C>G ENSP00000512062.1:p.Ala590=
ENST00000695623.1:c.1827C>G ENSP00000512063.1:p.Ala609=
ENST00000695624.1:n.1138C>G
ENST00000695625.1:c.1833C>G ENSP00000512064.1:p.Ala611=
ENST00000695626.1:c.588C>G ENSP00000512065.1:n.588C>G
ENST00000695627.1:c.781C>G ENSP00000512066.1:n.781C>G
ENST00000695628.1:c.392C>G ENSP00000512067.1:n.392C>G
ENST00000695629.1:c.273C>G ENSP00000512068.1:p.Ala91=
ENST00000695630.1:c.560C>G
ENST00000695631.1:c.115-21C>G
ENST00000703407.1:c.1305C>G ENSP00000512057.1:p.Ala435=
ENST00000308731.8:c.1833C>G MANE Select ENSP00000308176.8:p.Ala611=
ENST00000308731.7:c.1833C>G ENSP00000308176.7:p.Ala611=
ENST00000372880.5:c.1305C>G ENSP00000361971.1:p.Ala435=
ENST00000470069.1:n.198C>G
ENST00000618050.4:c.1832C>G ENSP00000479125.1:n.1832C>G
ENST00000621635.4:c.1935C>G ENSP00000483570.1:p.Ala645=
NM_000061.2:c.1833C>G , LRG_128t1:c.1833C>G NP_000052.1:p.Ala611=
NM_001287344.1:c.1935C>G NP_001274273.1:p.Ala645=
NM_001287345.1:c.1305C>G NP_001274274.1:p.Ala435=
NM_000061.3:c.1833C>G MANE Select NP_000052.1:p.Ala611=
NM_001287344.2:c.1935C>G NP_001274273.1:p.Ala645=
NM_001287345.2:c.1305C>G NP_001274274.1:p.Ala435=