Canonical Allele Identifier: CA2448281930

Gene: BTK

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101349910A= , CM000685.2:g.101349910A=	GRCh38
NC_000023.10:g.100604898A= , CM000685.1:g.100604898A=	GRCh37
NC_000023.9:g.100491554A=	NCBI36
NG_009616.1:g.41315T= , LRG_128:g.41315T=
NG_011734.1:g.4060T=

Transcript Alleles

HGVS	Amino-acid Change
NM_000061.3:c.1955T= MANE Select	NP_000052.1:p.Leu652=
ENST00000308731.8:c.1955T= MANE Select	ENSP00000308176.8:p.Leu652=
NM_000061.2:c.1955T= , LRG_128t1:c.1955T=	NP_000052.1:p.Leu652=
NM_001287344.1:c.2057T=	NP_001274273.1:p.Leu686=
NM_001287344.2:c.2057T=	NP_001274273.1:p.Leu686=
NM_001287345.1:c.1427T=	NP_001274274.1:p.Leu476=
NM_001287345.2:c.1427T=	NP_001274274.1:p.Leu476=
ENST00000308731.7:c.1955T=	ENSP00000308176.7:p.Leu652=
ENST00000372880.5:c.1427T=	ENSP00000361971.1:p.Leu476=
ENST00000478995.2:n.3472T=
ENST00000488970.2:n.4111T=
ENST00000618050.4:c.1954T=	ENSP00000479125.1:n.1954T=
ENST00000621635.4:c.2057T=	ENSP00000483570.1:p.Leu686=
ENST00000695614.1:c.1955T=	ENSP00000512053.1:p.Leu652=
ENST00000695615.1:c.1955T=	ENSP00000512054.1:p.Leu652=
ENST00000695616.1:c.*1800T=	ENSP00000512055.1:n.*1800T=
ENST00000695617.1:c.1952T=	ENSP00000512056.1:p.Leu651=
ENST00000695618.1:c.*1704T=	ENSP00000512058.1:n.*1704T=
ENST00000695619.1:c.*1665T=	ENSP00000512059.1:n.*1665T=
ENST00000695620.1:c.*1881T=	ENSP00000512060.1:n.*1881T=
ENST00000695621.1:c.*380T=	ENSP00000512061.1:n.*380T=
ENST00000695622.1:c.1892T=	ENSP00000512062.1:p.Leu631=
ENST00000695623.1:c.1949T=	ENSP00000512063.1:p.Leu650=
ENST00000695624.1:n.1260T=
ENST00000695625.1:c.1922T=	ENSP00000512064.1:p.Leu641=
ENST00000695626.1:c.710T=	ENSP00000512065.1:n.710T=
ENST00000695627.1:c.903T=	ENSP00000512066.1:n.903T=
ENST00000695628.1:c.514T=	ENSP00000512067.1:n.514T=
ENST00000695629.1:c.395T=	ENSP00000512068.1:p.Leu132=
ENST00000695630.1:c.682T=
ENST00000695631.1:c.216T=
ENST00000703407.1:c.1427T=	ENSP00000512057.1:p.Leu476=