Canonical Allele Identifier: CA2448283051

Gene: BTK

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101353329G= , CM000685.2:g.101353329G=	GRCh38
NC_000023.10:g.100608317G= , CM000685.1:g.100608317G=	GRCh37
NC_000023.9:g.100494973G=	NCBI36
NG_009616.1:g.37896C= , LRG_128:g.37896C=
NG_011734.1:g.641C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478995.2:n.3290C=
ENST00000488970.2:n.3929C=
ENST00000695614.1:c.1773C=	ENSP00000512053.1:p.Tyr591=
ENST00000695615.1:c.1773C=	ENSP00000512054.1:p.Tyr591=
ENST00000695616.1:c.*1618C=	ENSP00000512055.1:n.*1618C=
ENST00000695617.1:c.1770C=	ENSP00000512056.1:p.Tyr590=
ENST00000695618.1:c.*1522C=	ENSP00000512058.1:n.*1522C=
ENST00000695619.1:c.*1483C=	ENSP00000512059.1:n.*1483C=
ENST00000695620.1:c.*1699C=	ENSP00000512060.1:n.*1699C=
ENST00000695621.1:c.*198C=	ENSP00000512061.1:n.*198C=
ENST00000695622.1:c.1710C=	ENSP00000512062.1:p.Tyr570=
ENST00000695623.1:c.1767C=	ENSP00000512063.1:p.Tyr589=
ENST00000695624.1:n.1078C=
ENST00000695625.1:c.1773C=	ENSP00000512064.1:p.Tyr591=
ENST00000695626.1:c.528C=	ENSP00000512065.1:n.528C=
ENST00000695627.1:c.721C=	ENSP00000512066.1:n.721C=
ENST00000695628.1:c.332C=	ENSP00000512067.1:n.332C=
ENST00000695629.1:c.213C=	ENSP00000512068.1:p.Tyr71=
ENST00000695630.1:c.500C=
ENST00000695631.1:c.115-81C=
ENST00000703407.1:c.1245C=	ENSP00000512057.1:p.Tyr415=
ENST00000308731.8:c.1773C= MANE Select	ENSP00000308176.8:p.Tyr591=
ENST00000308731.7:c.1773C=	ENSP00000308176.7:p.Tyr591=
ENST00000372880.5:c.1245C=	ENSP00000361971.1:p.Tyr415=
ENST00000470069.1:n.138C=
ENST00000488970.1:n.375C=
ENST00000618050.4:c.1772C=	ENSP00000479125.1:n.1772C=
ENST00000621635.4:c.1875C=	ENSP00000483570.1:p.Tyr625=
NM_000061.2:c.1773C= , LRG_128t1:c.1773C=	NP_000052.1:p.Tyr591=
NM_001287344.1:c.1875C=	NP_001274273.1:p.Tyr625=
NM_001287345.1:c.1245C=	NP_001274274.1:p.Tyr415=
NM_000061.3:c.1773C= MANE Select	NP_000052.1:p.Tyr591=
NM_001287344.2:c.1875C=	NP_001274273.1:p.Tyr625=
NM_001287345.2:c.1245C=	NP_001274274.1:p.Tyr415=