Canonical Allele Identifier: CA2448283027

Gene: BTK

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101353247G= , CM000685.2:g.101353247G=	GRCh38
NC_000023.10:g.100608235G= , CM000685.1:g.100608235G=	GRCh37
NC_000023.9:g.100494891G=	NCBI36
NG_009616.1:g.37978C= , LRG_128:g.37978C=
NG_011734.1:g.723C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478995.2:n.3372C=
ENST00000488970.2:n.4011C=
ENST00000695614.1:c.1855C=	ENSP00000512053.1:p.Pro619=
ENST00000695615.1:c.1855C=	ENSP00000512054.1:p.Pro619=
ENST00000695616.1:c.*1700C=	ENSP00000512055.1:n.*1700C=
ENST00000695617.1:c.1852C=	ENSP00000512056.1:p.Pro618=
ENST00000695618.1:c.*1604C=	ENSP00000512058.1:n.*1604C=
ENST00000695619.1:c.*1565C=	ENSP00000512059.1:n.*1565C=
ENST00000695620.1:c.*1781C=	ENSP00000512060.1:n.*1781C=
ENST00000695621.1:c.*280C=	ENSP00000512061.1:n.*280C=
ENST00000695622.1:c.1792C=	ENSP00000512062.1:p.Pro598=
ENST00000695623.1:c.1849C=	ENSP00000512063.1:p.Pro617=
ENST00000695624.1:n.1160C=
ENST00000695625.1:c.1855C=	ENSP00000512064.1:p.Pro619=
ENST00000695626.1:c.610C=	ENSP00000512065.1:n.610C=
ENST00000695627.1:c.803C=	ENSP00000512066.1:n.803C=
ENST00000695628.1:c.414C=	ENSP00000512067.1:n.414C=
ENST00000695629.1:c.295C=	ENSP00000512068.1:p.Pro99=
ENST00000695630.1:c.582C=
ENST00000695631.1:c.116C=
ENST00000703407.1:c.1327C=	ENSP00000512057.1:p.Pro443=
ENST00000308731.8:c.1855C= MANE Select	ENSP00000308176.8:p.Pro619=
ENST00000308731.7:c.1855C=	ENSP00000308176.7:p.Pro619=
ENST00000372880.5:c.1327C=	ENSP00000361971.1:p.Pro443=
ENST00000470069.1:n.220C=
ENST00000618050.4:c.1854C=	ENSP00000479125.1:n.1854C=
ENST00000621635.4:c.1957C=	ENSP00000483570.1:p.Pro653=
NM_000061.2:c.1855C= , LRG_128t1:c.1855C=	NP_000052.1:p.Pro619=
NM_001287344.1:c.1957C=	NP_001274273.1:p.Pro653=
NM_001287345.1:c.1327C=	NP_001274274.1:p.Pro443=
NM_000061.3:c.1855C= MANE Select	NP_000052.1:p.Pro619=
NM_001287344.2:c.1957C=	NP_001274273.1:p.Pro653=
NM_001287345.2:c.1327C=	NP_001274274.1:p.Pro443=