Canonical Allele Identifier: CA413918444

Gene: BTK

Linked Data

• MyVariant Identifiers: chrX:g.100608195C>T (hg19) ; chrX:g.101353207C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101353207C>T , CM000685.2:g.101353207C>T	GRCh38
NC_000023.10:g.100608195C>T , CM000685.1:g.100608195C>T	GRCh37
NC_000023.9:g.100494851C>T	NCBI36
NG_009616.1:g.38018G>A , LRG_128:g.38018G>A
NG_011734.1:g.763G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000478995.2:n.3412G>A
ENST00000488970.2:n.4051G>A
ENST00000695614.1:c.1895G>A	ENSP00000512053.1:p.Ser632Asn
ENST00000695615.1:c.1895G>A	ENSP00000512054.1:p.Ser632Asn
ENST00000695616.1:c.*1740G>A	ENSP00000512055.1:n.*1740G>A
ENST00000695617.1:c.1892G>A	ENSP00000512056.1:p.Ser631Asn
ENST00000695618.1:c.*1644G>A	ENSP00000512058.1:n.*1644G>A
ENST00000695619.1:c.*1605G>A	ENSP00000512059.1:n.*1605G>A
ENST00000695620.1:c.*1821G>A	ENSP00000512060.1:n.*1821G>A
ENST00000695621.1:c.*320G>A	ENSP00000512061.1:n.*320G>A
ENST00000695622.1:c.1832G>A	ENSP00000512062.1:p.Ser611Asn
ENST00000695623.1:c.1889G>A	ENSP00000512063.1:p.Ser630Asn
ENST00000695624.1:n.1200G>A
ENST00000695625.1:c.1875+20G>A	ENSP00000512064.1:n.1875+20G>A
ENST00000695626.1:c.650G>A	ENSP00000512065.1:n.650G>A
ENST00000695627.1:c.843G>A	ENSP00000512066.1:n.843G>A
ENST00000695628.1:c.454G>A	ENSP00000512067.1:n.454G>A
ENST00000695629.1:c.335G>A	ENSP00000512068.1:p.Ser112Asn
ENST00000695630.1:c.622G>A
ENST00000695631.1:c.156G>A
ENST00000703407.1:c.1367G>A	ENSP00000512057.1:p.Ser456Asn
ENST00000308731.8:c.1895G>A MANE Select	ENSP00000308176.8:p.Ser632Asn
ENST00000308731.7:c.1895G>A	ENSP00000308176.7:p.Ser632Asn
ENST00000372880.5:c.1367G>A	ENSP00000361971.1:p.Ser456Asn
ENST00000470069.1:n.260G>A
ENST00000618050.4:c.1894G>A	ENSP00000479125.1:n.1894G>A
ENST00000621635.4:c.1997G>A	ENSP00000483570.1:p.Ser666Asn
NM_000061.2:c.1895G>A , LRG_128t1:c.1895G>A	NP_000052.1:p.Ser632Asn
NM_001287344.1:c.1997G>A	NP_001274273.1:p.Ser666Asn
NM_001287345.1:c.1367G>A	NP_001274274.1:p.Ser456Asn
NM_000061.3:c.1895G>A MANE Select	NP_000052.1:p.Ser632Asn
NM_001287344.2:c.1997G>A	NP_001274273.1:p.Ser666Asn
NM_001287345.2:c.1367G>A	NP_001274274.1:p.Ser456Asn