Canonical Allele Identifier: CA413919372

Gene: BTK

Linked Data

• MyVariant Identifiers: chrX:g.100608303A>C (hg19) ; chrX:g.101353315A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101353315A>C , CM000685.2:g.101353315A>C	GRCh38
NC_000023.10:g.100608303A>C , CM000685.1:g.100608303A>C	GRCh37
NC_000023.9:g.100494959A>C	NCBI36
NG_009616.1:g.37910T>G , LRG_128:g.37910T>G
NG_011734.1:g.655T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000478995.2:n.3304T>G
ENST00000488970.2:n.3943T>G
ENST00000695614.1:c.1787T>G	ENSP00000512053.1:p.Met596Arg
ENST00000695615.1:c.1787T>G	ENSP00000512054.1:p.Met596Arg
ENST00000695616.1:c.*1632T>G	ENSP00000512055.1:n.*1632T>G
ENST00000695617.1:c.1784T>G	ENSP00000512056.1:p.Met595Arg
ENST00000695618.1:c.*1536T>G	ENSP00000512058.1:n.*1536T>G
ENST00000695619.1:c.*1497T>G	ENSP00000512059.1:n.*1497T>G
ENST00000695620.1:c.*1713T>G	ENSP00000512060.1:n.*1713T>G
ENST00000695621.1:c.*212T>G	ENSP00000512061.1:n.*212T>G
ENST00000695622.1:c.1724T>G	ENSP00000512062.1:p.Met575Arg
ENST00000695623.1:c.1781T>G	ENSP00000512063.1:p.Met594Arg
ENST00000695624.1:n.1092T>G
ENST00000695625.1:c.1787T>G	ENSP00000512064.1:p.Met596Arg
ENST00000695626.1:c.542T>G	ENSP00000512065.1:n.542T>G
ENST00000695627.1:c.735T>G	ENSP00000512066.1:n.735T>G
ENST00000695628.1:c.346T>G	ENSP00000512067.1:n.346T>G
ENST00000695629.1:c.227T>G	ENSP00000512068.1:p.Met76Arg
ENST00000695630.1:c.514T>G
ENST00000695631.1:c.115-67T>G
ENST00000703407.1:c.1259T>G	ENSP00000512057.1:p.Met420Arg
ENST00000308731.8:c.1787T>G MANE Select	ENSP00000308176.8:p.Met596Arg
ENST00000308731.7:c.1787T>G	ENSP00000308176.7:p.Met596Arg
ENST00000372880.5:c.1259T>G	ENSP00000361971.1:p.Met420Arg
ENST00000470069.1:n.152T>G
ENST00000618050.4:c.1786T>G	ENSP00000479125.1:n.1786T>G
ENST00000621635.4:c.1889T>G	ENSP00000483570.1:p.Met630Arg
NM_000061.2:c.1787T>G , LRG_128t1:c.1787T>G	NP_000052.1:p.Met596Arg
NM_001287344.1:c.1889T>G	NP_001274273.1:p.Met630Arg
NM_001287345.1:c.1259T>G	NP_001274274.1:p.Met420Arg
NM_000061.3:c.1787T>G MANE Select	NP_000052.1:p.Met596Arg
NM_001287344.2:c.1889T>G	NP_001274273.1:p.Met630Arg
NM_001287345.2:c.1259T>G	NP_001274274.1:p.Met420Arg