Canonical Allele Identifier: CA413918346

Gene: BTK

Linked Data

• MyVariant Identifiers: chrX:g.100608187G>C (hg19) ; chrX:g.101353199G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101353199G>C , CM000685.2:g.101353199G>C	GRCh38
NC_000023.10:g.100608187G>C , CM000685.1:g.100608187G>C	GRCh37
NC_000023.9:g.100494843G>C	NCBI36
NG_009616.1:g.38026C>G , LRG_128:g.38026C>G
NG_011734.1:g.771C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000478995.2:n.3420C>G
ENST00000488970.2:n.4059C>G
ENST00000695614.1:c.1903C>G	ENSP00000512053.1:p.His635Asp
ENST00000695615.1:c.1903C>G	ENSP00000512054.1:p.His635Asp
ENST00000695616.1:c.*1748C>G	ENSP00000512055.1:n.*1748C>G
ENST00000695617.1:c.1900C>G	ENSP00000512056.1:p.His634Asp
ENST00000695618.1:c.*1652C>G	ENSP00000512058.1:n.*1652C>G
ENST00000695619.1:c.*1613C>G	ENSP00000512059.1:n.*1613C>G
ENST00000695620.1:c.*1829C>G	ENSP00000512060.1:n.*1829C>G
ENST00000695621.1:c.*328C>G	ENSP00000512061.1:n.*328C>G
ENST00000695622.1:c.1840C>G	ENSP00000512062.1:p.His614Asp
ENST00000695623.1:c.1897C>G	ENSP00000512063.1:p.His633Asp
ENST00000695624.1:n.1208C>G
ENST00000695625.1:c.1875+28C>G	ENSP00000512064.1:n.1875+28C>G
ENST00000695626.1:c.658C>G	ENSP00000512065.1:n.658C>G
ENST00000695627.1:c.851C>G	ENSP00000512066.1:n.851C>G
ENST00000695628.1:c.462C>G	ENSP00000512067.1:n.462C>G
ENST00000695629.1:c.343C>G	ENSP00000512068.1:p.His115Asp
ENST00000695630.1:c.630C>G
ENST00000695631.1:c.164C>G
ENST00000703407.1:c.1375C>G	ENSP00000512057.1:p.His459Asp
ENST00000308731.8:c.1903C>G MANE Select	ENSP00000308176.8:p.His635Asp
ENST00000308731.7:c.1903C>G	ENSP00000308176.7:p.His635Asp
ENST00000372880.5:c.1375C>G	ENSP00000361971.1:p.His459Asp
ENST00000470069.1:n.268C>G
ENST00000618050.4:c.1902C>G	ENSP00000479125.1:n.1902C>G
ENST00000621635.4:c.2005C>G	ENSP00000483570.1:p.His669Asp
NM_000061.2:c.1903C>G , LRG_128t1:c.1903C>G	NP_000052.1:p.His635Asp
NM_001287344.1:c.2005C>G	NP_001274273.1:p.His669Asp
NM_001287345.1:c.1375C>G	NP_001274274.1:p.His459Asp
NM_000061.3:c.1903C>G MANE Select	NP_000052.1:p.His635Asp
NM_001287344.2:c.2005C>G	NP_001274273.1:p.His669Asp
NM_001287345.2:c.1375C>G	NP_001274274.1:p.His459Asp