Canonical Allele Identifier: CA413918389

Gene: BTK

Linked Data

• MyVariant Identifiers: chrX:g.100608191G>C (hg19) ; chrX:g.101353203G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101353203G>C , CM000685.2:g.101353203G>C	GRCh38
NC_000023.10:g.100608191G>C , CM000685.1:g.100608191G>C	GRCh37
NC_000023.9:g.100494847G>C	NCBI36
NG_009616.1:g.38022C>G , LRG_128:g.38022C>G
NG_011734.1:g.767C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478995.2:n.3416C>G
ENST00000488970.2:n.4055C>G
ENST00000695614.1:c.1899C>G	ENSP00000512053.1:p.Cys633Trp
ENST00000695615.1:c.1899C>G	ENSP00000512054.1:p.Cys633Trp
ENST00000695616.1:c.*1744C>G	ENSP00000512055.1:n.*1744C>G
ENST00000695617.1:c.1896C>G	ENSP00000512056.1:p.Cys632Trp
ENST00000695618.1:c.*1648C>G	ENSP00000512058.1:n.*1648C>G
ENST00000695619.1:c.*1609C>G	ENSP00000512059.1:n.*1609C>G
ENST00000695620.1:c.*1825C>G	ENSP00000512060.1:n.*1825C>G
ENST00000695621.1:c.*324C>G	ENSP00000512061.1:n.*324C>G
ENST00000695622.1:c.1836C>G	ENSP00000512062.1:p.Cys612Trp
ENST00000695623.1:c.1893C>G	ENSP00000512063.1:p.Cys631Trp
ENST00000695624.1:n.1204C>G
ENST00000695625.1:c.1875+24C>G	ENSP00000512064.1:n.1875+24C>G
ENST00000695626.1:c.654C>G	ENSP00000512065.1:n.654C>G
ENST00000695627.1:c.847C>G	ENSP00000512066.1:n.847C>G
ENST00000695628.1:c.458C>G	ENSP00000512067.1:n.458C>G
ENST00000695629.1:c.339C>G	ENSP00000512068.1:p.Cys113Trp
ENST00000695630.1:c.626C>G
ENST00000695631.1:c.160C>G
ENST00000703407.1:c.1371C>G	ENSP00000512057.1:p.Cys457Trp
ENST00000308731.8:c.1899C>G MANE Select	ENSP00000308176.8:p.Cys633Trp
ENST00000308731.7:c.1899C>G	ENSP00000308176.7:p.Cys633Trp
ENST00000372880.5:c.1371C>G	ENSP00000361971.1:p.Cys457Trp
ENST00000470069.1:n.264C>G
ENST00000618050.4:c.1898C>G	ENSP00000479125.1:n.1898C>G
ENST00000621635.4:c.2001C>G	ENSP00000483570.1:p.Cys667Trp
NM_000061.2:c.1899C>G , LRG_128t1:c.1899C>G	NP_000052.1:p.Cys633Trp
NM_001287344.1:c.2001C>G	NP_001274273.1:p.Cys667Trp
NM_001287345.1:c.1371C>G	NP_001274274.1:p.Cys457Trp
NM_000061.3:c.1899C>G MANE Select	NP_000052.1:p.Cys633Trp
NM_001287344.2:c.2001C>G	NP_001274273.1:p.Cys667Trp
NM_001287345.2:c.1371C>G	NP_001274274.1:p.Cys457Trp