Canonical Allele Identifier: CA2448283213

Gene: BTK

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101353886A= , CM000685.2:g.101353886A=	GRCh38
NC_000023.10:g.100608874A= , CM000685.1:g.100608874A=	GRCh37
NC_000023.9:g.100495530A=	NCBI36
NG_009616.1:g.37339T= , LRG_128:g.37339T=
NG_011734.1:g.84T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478995.2:n.3251T=
ENST00000488970.2:n.3890T=
ENST00000695614.1:c.1734T=	ENSP00000512053.1:p.Ser578=
ENST00000695615.1:c.1734T=	ENSP00000512054.1:p.Ser578=
ENST00000695616.1:c.*1579T=	ENSP00000512055.1:n.*1579T=
ENST00000695617.1:c.1731T=	ENSP00000512056.1:p.Ser577=
ENST00000695618.1:c.*1483T=	ENSP00000512058.1:n.*1483T=
ENST00000695619.1:c.*1444T=	ENSP00000512059.1:n.*1444T=
ENST00000695620.1:c.*1660T=	ENSP00000512060.1:n.*1660T=
ENST00000695621.1:c.*159T=	ENSP00000512061.1:n.*159T=
ENST00000695622.1:c.1671T=	ENSP00000512062.1:p.Ser557=
ENST00000695623.1:c.1728T=	ENSP00000512063.1:p.Ser576=
ENST00000695624.1:n.1039T=
ENST00000695625.1:c.1734T=	ENSP00000512064.1:p.Ser578=
ENST00000695626.1:c.489T=	ENSP00000512065.1:n.489T=
ENST00000695627.1:c.682T=	ENSP00000512066.1:n.682T=
ENST00000695628.1:c.293T=	ENSP00000512067.1:n.293T=
ENST00000695629.1:c.191-535T=	ENSP00000512068.1:n.191-535T=
ENST00000695630.1:c.461T=
ENST00000695631.1:c.115-638T=
ENST00000703407.1:c.1206T=	ENSP00000512057.1:p.Ser402=
ENST00000308731.8:c.1734T= MANE Select	ENSP00000308176.8:p.Ser578=
ENST00000308731.7:c.1734T=	ENSP00000308176.7:p.Ser578=
ENST00000372880.5:c.1206T=	ENSP00000361971.1:p.Ser402=
ENST00000470069.1:n.99T=
ENST00000488970.1:n.336T=
ENST00000618050.4:c.1733T=	ENSP00000479125.1:n.1733T=
ENST00000621635.4:c.1836T=	ENSP00000483570.1:p.Ser612=
NM_000061.2:c.1734T= , LRG_128t1:c.1734T=	NP_000052.1:p.Ser578=
NM_001287344.1:c.1836T=	NP_001274273.1:p.Ser612=
NM_001287345.1:c.1206T=	NP_001274274.1:p.Ser402=
NM_000061.3:c.1734T= MANE Select	NP_000052.1:p.Ser578=
NM_001287344.2:c.1836T=	NP_001274273.1:p.Ser612=
NM_001287345.2:c.1206T=	NP_001274274.1:p.Ser402=