Canonical Allele Identifier: CA2448283170

Gene: BTK

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101353756G= , CM000685.2:g.101353756G=	GRCh38
NC_000023.10:g.100608744G= , CM000685.1:g.100608744G=	GRCh37
NC_000023.9:g.100495400G=	NCBI36
NG_009616.1:g.37469C= , LRG_128:g.37469C=
NG_011734.1:g.214C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478995.2:n.3267+114C=
ENST00000488970.2:n.3906+114C=
ENST00000695614.1:c.1750+114C=	ENSP00000512053.1:n.1750+114C=
ENST00000695615.1:c.1750+114C=	ENSP00000512054.1:n.1750+114C=
ENST00000695616.1:c.*1595+114C=	ENSP00000512055.1:n.*1595+114C=
ENST00000695617.1:c.1747+114C=	ENSP00000512056.1:n.1747+114C=
ENST00000695618.1:c.*1499+114C=	ENSP00000512058.1:n.*1499+114C=
ENST00000695619.1:c.*1460+114C=	ENSP00000512059.1:n.*1460+114C=
ENST00000695620.1:c.*1676+114C=	ENSP00000512060.1:n.*1676+114C=
ENST00000695621.1:c.*175+114C=	ENSP00000512061.1:n.*175+114C=
ENST00000695622.1:c.1687+114C=	ENSP00000512062.1:n.1687+114C=
ENST00000695623.1:c.1744+114C=	ENSP00000512063.1:n.1744+114C=
ENST00000695624.1:n.1055+114C=
ENST00000695625.1:c.1750+114C=	ENSP00000512064.1:n.1750+114C=
ENST00000695626.1:c.505+114C=	ENSP00000512065.1:n.505+114C=
ENST00000695627.1:c.698+114C=	ENSP00000512066.1:n.698+114C=
ENST00000695628.1:c.309+114C=	ENSP00000512067.1:n.309+114C=
ENST00000695629.1:c.191-405C=	ENSP00000512068.1:n.191-405C=
ENST00000695630.1:c.477+114C=
ENST00000695631.1:c.115-508C=
ENST00000703407.1:c.1222+114C=	ENSP00000512057.1:n.1222+114C=
ENST00000308731.8:c.1750+114C= MANE Select	ENSP00000308176.8:n.1750+114C=
ENST00000308731.7:c.1750+114C=	ENSP00000308176.7:n.1750+114C=
ENST00000372880.5:c.1222+114C=	ENSP00000361971.1:n.1222+114C=
ENST00000470069.1:n.115+114C=
ENST00000488970.1:n.352+114C=
ENST00000618050.4:c.1749+114C=	ENSP00000479125.1:n.1749+114C=
ENST00000621635.4:c.1852+114C=	ENSP00000483570.1:n.1852+114C=
NM_000061.2:c.1750+114C= , LRG_128t1:c.1750+114C=	NP_000052.1:n.1750+114C=
NM_001287344.1:c.1852+114C=	NP_001274273.1:n.1852+114C=
NM_001287345.1:c.1222+114C=	NP_001274274.1:n.1222+114C=
NM_000061.3:c.1750+114C= MANE Select	NP_000052.1:n.1750+114C=
NM_001287344.2:c.1852+114C=	NP_001274273.1:n.1852+114C=
NM_001287345.2:c.1222+114C=	NP_001274274.1:n.1222+114C=