Canonical Allele Identifier: CA2448283056

Gene: BTK

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101353341C= , CM000685.2:g.101353341C=	GRCh38
NC_000023.10:g.100608329C= , CM000685.1:g.100608329C=	GRCh37
NC_000023.9:g.100494985C=	NCBI36
NG_009616.1:g.37884G= , LRG_128:g.37884G=
NG_011734.1:g.629G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478995.2:n.3278G=
ENST00000488970.2:n.3917G=
ENST00000695614.1:c.1761G=	ENSP00000512053.1:p.Met587=
ENST00000695615.1:c.1761G=	ENSP00000512054.1:p.Met587=
ENST00000695616.1:c.*1606G=	ENSP00000512055.1:n.*1606G=
ENST00000695617.1:c.1758G=	ENSP00000512056.1:p.Met586=
ENST00000695618.1:c.*1510G=	ENSP00000512058.1:n.*1510G=
ENST00000695619.1:c.*1471G=	ENSP00000512059.1:n.*1471G=
ENST00000695620.1:c.*1687G=	ENSP00000512060.1:n.*1687G=
ENST00000695621.1:c.*186G=	ENSP00000512061.1:n.*186G=
ENST00000695622.1:c.1698G=	ENSP00000512062.1:p.Met566=
ENST00000695623.1:c.1755G=	ENSP00000512063.1:p.Met585=
ENST00000695624.1:n.1066G=
ENST00000695625.1:c.1761G=	ENSP00000512064.1:p.Met587=
ENST00000695626.1:c.516G=	ENSP00000512065.1:n.516G=
ENST00000695627.1:c.709G=	ENSP00000512066.1:n.709G=
ENST00000695628.1:c.320G=	ENSP00000512067.1:n.320G=
ENST00000695629.1:c.201G=	ENSP00000512068.1:p.Met67=
ENST00000695630.1:c.488G=
ENST00000695631.1:c.115-93G=
ENST00000703407.1:c.1233G=	ENSP00000512057.1:p.Met411=
ENST00000308731.8:c.1761G= MANE Select	ENSP00000308176.8:p.Met587=
ENST00000308731.7:c.1761G=	ENSP00000308176.7:p.Met587=
ENST00000372880.5:c.1233G=	ENSP00000361971.1:p.Met411=
ENST00000470069.1:n.126G=
ENST00000488970.1:n.363G=
ENST00000618050.4:c.1760G=	ENSP00000479125.1:n.1760G=
ENST00000621635.4:c.1863G=	ENSP00000483570.1:p.Met621=
NM_000061.2:c.1761G= , LRG_128t1:c.1761G=	NP_000052.1:p.Met587=
NM_001287344.1:c.1863G=	NP_001274273.1:p.Met621=
NM_001287345.1:c.1233G=	NP_001274274.1:p.Met411=
NM_000061.3:c.1761G= MANE Select	NP_000052.1:p.Met587=
NM_001287344.2:c.1863G=	NP_001274273.1:p.Met621=
NM_001287345.2:c.1233G=	NP_001274274.1:p.Met411=