Canonical Allele Identifier: CA2448283059

Gene: BTK

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101353345A= , CM000685.2:g.101353345A=	GRCh38
NC_000023.10:g.100608333A= , CM000685.1:g.100608333A=	GRCh37
NC_000023.9:g.100494989A=	NCBI36
NG_009616.1:g.37880T= , LRG_128:g.37880T=
NG_011734.1:g.625T=

Transcript Alleles

HGVS	Amino-acid Change
NM_000061.3:c.1757T= MANE Select	NP_000052.1:p.Leu586=
ENST00000308731.8:c.1757T= MANE Select	ENSP00000308176.8:p.Leu586=
NM_000061.2:c.1757T= , LRG_128t1:c.1757T=	NP_000052.1:p.Leu586=
NM_001287344.1:c.1859T=	NP_001274273.1:p.Leu620=
NM_001287344.2:c.1859T=	NP_001274273.1:p.Leu620=
NM_001287345.1:c.1229T=	NP_001274274.1:p.Leu410=
NM_001287345.2:c.1229T=	NP_001274274.1:p.Leu410=
ENST00000308731.7:c.1757T=	ENSP00000308176.7:p.Leu586=
ENST00000372880.5:c.1229T=	ENSP00000361971.1:p.Leu410=
ENST00000470069.1:n.122T=
ENST00000478995.2:n.3274T=
ENST00000488970.1:n.359T=
ENST00000488970.2:n.3913T=
ENST00000618050.4:c.1756T=	ENSP00000479125.1:n.1756T=
ENST00000621635.4:c.1859T=	ENSP00000483570.1:p.Leu620=
ENST00000695614.1:c.1757T=	ENSP00000512053.1:p.Leu586=
ENST00000695615.1:c.1757T=	ENSP00000512054.1:p.Leu586=
ENST00000695616.1:c.*1602T=	ENSP00000512055.1:n.*1602T=
ENST00000695617.1:c.1754T=	ENSP00000512056.1:p.Leu585=
ENST00000695618.1:c.*1506T=	ENSP00000512058.1:n.*1506T=
ENST00000695619.1:c.*1467T=	ENSP00000512059.1:n.*1467T=
ENST00000695620.1:c.*1683T=	ENSP00000512060.1:n.*1683T=
ENST00000695621.1:c.*182T=	ENSP00000512061.1:n.*182T=
ENST00000695622.1:c.1694T=	ENSP00000512062.1:p.Leu565=
ENST00000695623.1:c.1751T=	ENSP00000512063.1:p.Leu584=
ENST00000695624.1:n.1062T=
ENST00000695625.1:c.1757T=	ENSP00000512064.1:p.Leu586=
ENST00000695626.1:c.512T=	ENSP00000512065.1:n.512T=
ENST00000695627.1:c.705T=	ENSP00000512066.1:n.705T=
ENST00000695628.1:c.316T=	ENSP00000512067.1:n.316T=
ENST00000695629.1:c.197T=	ENSP00000512068.1:p.Leu66=
ENST00000695630.1:c.484T=
ENST00000695631.1:c.115-97T=
ENST00000703407.1:c.1229T=	ENSP00000512057.1:p.Leu410=