Canonical Allele Identifier: CA413928923
Gene: BTK HGNC NCBI

Linked Data

COSMIC: COSM6191212
MyVariant Identifiers: chrX:g.100613633T>C (hg19) chrX:g.101358645T>C (hg38)
CIViC: CA413928923
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101358645T>C , CM000685.2:g.101358645T>C GRCh38
NC_000023.10:g.100613633T>C , CM000685.1:g.100613633T>C GRCh37
NC_000023.9:g.100500289T>C NCBI36
NG_009616.1:g.32580A>G , LRG_128:g.32580A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000464006.2:n.726A>G
ENST00000478995.2:n.1106A>G
ENST00000488970.2:n.1104A>G
ENST00000695614.1:c.946A>G ENSP00000512053.1:p.Thr316Ala
ENST00000695615.1:c.946A>G ENSP00000512054.1:p.Thr316Ala
ENST00000695616.1:c.*791A>G ENSP00000512055.1:n.*791A>G
ENST00000695617.1:c.943A>G ENSP00000512056.1:p.Thr315Ala
ENST00000695618.1:c.*695A>G ENSP00000512058.1:n.*695A>G
ENST00000695619.1:c.*685-208A>G ENSP00000512059.1:n.*685-208A>G
ENST00000695620.1:c.*791A>G ENSP00000512060.1:n.*791A>G
ENST00000695621.1:c.946A>G ENSP00000512061.1:p.Thr316Ala
ENST00000695622.1:c.883A>G ENSP00000512062.1:p.Thr295Ala
ENST00000695623.1:c.940A>G ENSP00000512063.1:p.Thr314Ala
ENST00000695624.1:n.251A>G
ENST00000695625.1:c.946A>G ENSP00000512064.1:p.Thr316Ala
ENST00000703407.1:c.946A>G ENSP00000512057.1:p.Thr316Ala
ENST00000308731.8:c.946A>G MANE Select ENSP00000308176.8:p.Thr316Ala
ENST00000308731.7:c.946A>G ENSP00000308176.7:p.Thr316Ala
ENST00000372880.5:c.946A>G ENSP00000361971.1:p.Thr316Ala
ENST00000618050.4:c.946A>G ENSP00000479125.1:p.Thr316Ala
ENST00000621635.4:c.1048A>G ENSP00000483570.1:p.Thr350Ala
NM_000061.2:c.946A>G , LRG_128t1:c.946A>G NP_000052.1:p.Thr316Ala
NM_001287344.1:c.1048A>G NP_001274273.1:p.Thr350Ala
NM_001287345.1:c.946A>G NP_001274274.1:p.Thr316Ala
NM_000061.3:c.946A>G MANE Select NP_000052.1:p.Thr316Ala
NM_001287344.2:c.1048A>G NP_001274273.1:p.Thr350Ala
NM_001287345.2:c.946A>G NP_001274274.1:p.Thr316Ala
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