Canonical Allele Identifier: CA2448283043

Gene: BTK

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101353301A= , CM000685.2:g.101353301A=	GRCh38
NC_000023.10:g.100608289A= , CM000685.1:g.100608289A=	GRCh37
NC_000023.9:g.100494945A=	NCBI36
NG_009616.1:g.37924T= , LRG_128:g.37924T=
NG_011734.1:g.669T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478995.2:n.3318T=
ENST00000488970.2:n.3957T=
ENST00000695614.1:c.1801T=	ENSP00000512053.1:p.Phe601=
ENST00000695615.1:c.1801T=	ENSP00000512054.1:p.Phe601=
ENST00000695616.1:c.*1646T=	ENSP00000512055.1:n.*1646T=
ENST00000695617.1:c.1798T=	ENSP00000512056.1:p.Phe600=
ENST00000695618.1:c.*1550T=	ENSP00000512058.1:n.*1550T=
ENST00000695619.1:c.*1511T=	ENSP00000512059.1:n.*1511T=
ENST00000695620.1:c.*1727T=	ENSP00000512060.1:n.*1727T=
ENST00000695621.1:c.*226T=	ENSP00000512061.1:n.*226T=
ENST00000695622.1:c.1738T=	ENSP00000512062.1:p.Phe580=
ENST00000695623.1:c.1795T=	ENSP00000512063.1:p.Phe599=
ENST00000695624.1:n.1106T=
ENST00000695625.1:c.1801T=	ENSP00000512064.1:p.Phe601=
ENST00000695626.1:c.556T=	ENSP00000512065.1:n.556T=
ENST00000695627.1:c.749T=	ENSP00000512066.1:n.749T=
ENST00000695628.1:c.360T=	ENSP00000512067.1:n.360T=
ENST00000695629.1:c.241T=	ENSP00000512068.1:p.Phe81=
ENST00000695630.1:c.528T=
ENST00000695631.1:c.115-53T=
ENST00000703407.1:c.1273T=	ENSP00000512057.1:p.Phe425=
ENST00000308731.8:c.1801T= MANE Select	ENSP00000308176.8:p.Phe601=
ENST00000308731.7:c.1801T=	ENSP00000308176.7:p.Phe601=
ENST00000372880.5:c.1273T=	ENSP00000361971.1:p.Phe425=
ENST00000470069.1:n.166T=
ENST00000618050.4:c.1800T=	ENSP00000479125.1:n.1800T=
ENST00000621635.4:c.1903T=	ENSP00000483570.1:p.Phe635=
NM_000061.2:c.1801T= , LRG_128t1:c.1801T=	NP_000052.1:p.Phe601=
NM_001287344.1:c.1903T=	NP_001274273.1:p.Phe635=
NM_001287345.1:c.1273T=	NP_001274274.1:p.Phe425=
NM_000061.3:c.1801T= MANE Select	NP_000052.1:p.Phe601=
NM_001287344.2:c.1903T=	NP_001274273.1:p.Phe635=
NM_001287345.2:c.1273T=	NP_001274274.1:p.Phe425=