Canonical Allele Identifier: CA2448283030

Gene: BTK

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101353252T= , CM000685.2:g.101353252T=	GRCh38
NC_000023.10:g.100608240T= , CM000685.1:g.100608240T=	GRCh37
NC_000023.9:g.100494896T=	NCBI36
NG_009616.1:g.37973A= , LRG_128:g.37973A=
NG_011734.1:g.718A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478995.2:n.3367A=
ENST00000488970.2:n.4006A=
ENST00000695614.1:c.1850A=	ENSP00000512053.1:p.Tyr617=
ENST00000695615.1:c.1850A=	ENSP00000512054.1:p.Tyr617=
ENST00000695616.1:c.*1695A=	ENSP00000512055.1:n.*1695A=
ENST00000695617.1:c.1847A=	ENSP00000512056.1:p.Tyr616=
ENST00000695618.1:c.*1599A=	ENSP00000512058.1:n.*1599A=
ENST00000695619.1:c.*1560A=	ENSP00000512059.1:n.*1560A=
ENST00000695620.1:c.*1776A=	ENSP00000512060.1:n.*1776A=
ENST00000695621.1:c.*275A=	ENSP00000512061.1:n.*275A=
ENST00000695622.1:c.1787A=	ENSP00000512062.1:p.Tyr596=
ENST00000695623.1:c.1844A=	ENSP00000512063.1:p.Tyr615=
ENST00000695624.1:n.1155A=
ENST00000695625.1:c.1850A=	ENSP00000512064.1:p.Tyr617=
ENST00000695626.1:c.605A=	ENSP00000512065.1:n.605A=
ENST00000695627.1:c.798A=	ENSP00000512066.1:n.798A=
ENST00000695628.1:c.409A=	ENSP00000512067.1:n.409A=
ENST00000695629.1:c.290A=	ENSP00000512068.1:p.Tyr97=
ENST00000695630.1:c.577A=
ENST00000695631.1:c.115-4A=
ENST00000703407.1:c.1322A=	ENSP00000512057.1:p.Tyr441=
ENST00000308731.8:c.1850A= MANE Select	ENSP00000308176.8:p.Tyr617=
ENST00000308731.7:c.1850A=	ENSP00000308176.7:p.Tyr617=
ENST00000372880.5:c.1322A=	ENSP00000361971.1:p.Tyr441=
ENST00000470069.1:n.215A=
ENST00000618050.4:c.1849A=	ENSP00000479125.1:n.1849A=
ENST00000621635.4:c.1952A=	ENSP00000483570.1:p.Tyr651=
NM_000061.2:c.1850A= , LRG_128t1:c.1850A=	NP_000052.1:p.Tyr617=
NM_001287344.1:c.1952A=	NP_001274273.1:p.Tyr651=
NM_001287345.1:c.1322A=	NP_001274274.1:p.Tyr441=
NM_000061.3:c.1850A= MANE Select	NP_000052.1:p.Tyr617=
NM_001287344.2:c.1952A=	NP_001274273.1:p.Tyr651=
NM_001287345.2:c.1322A=	NP_001274274.1:p.Tyr441=