Canonical Allele Identifier: CA517529529

Gene: BTK

Linked Data

• MyVariant Identifiers: chrX:g.100608212T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101353224T>G , CM000685.2:g.101353224T>G	GRCh38
NC_000023.10:g.100608212T>G , CM000685.1:g.100608212T>G	GRCh37
NC_000023.9:g.100494868T>G	NCBI36
NG_009616.1:g.38001A>C , LRG_128:g.38001A>C
NG_011734.1:g.746A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478995.2:n.3395A>C
ENST00000488970.2:n.4034A>C
ENST00000695614.1:c.1878A>C	ENSP00000512053.1:p.Val626=
ENST00000695615.1:c.1878A>C	ENSP00000512054.1:p.Val626=
ENST00000695616.1:c.*1723A>C	ENSP00000512055.1:n.*1723A>C
ENST00000695617.1:c.1875A>C	ENSP00000512056.1:p.Val625=
ENST00000695618.1:c.*1627A>C	ENSP00000512058.1:n.*1627A>C
ENST00000695619.1:c.*1588A>C	ENSP00000512059.1:n.*1588A>C
ENST00000695620.1:c.*1804A>C	ENSP00000512060.1:n.*1804A>C
ENST00000695621.1:c.*303A>C	ENSP00000512061.1:n.*303A>C
ENST00000695622.1:c.1815A>C	ENSP00000512062.1:p.Val605=
ENST00000695623.1:c.1872A>C	ENSP00000512063.1:p.Val624=
ENST00000695624.1:n.1183A>C
ENST00000695625.1:c.1875+3A>C	ENSP00000512064.1:n.1875+3A>C
ENST00000695626.1:c.633A>C	ENSP00000512065.1:n.633A>C
ENST00000695627.1:c.826A>C	ENSP00000512066.1:n.826A>C
ENST00000695628.1:c.437A>C	ENSP00000512067.1:n.437A>C
ENST00000695629.1:c.318A>C	ENSP00000512068.1:p.Val106=
ENST00000695630.1:c.605A>C
ENST00000695631.1:c.139A>C
ENST00000703407.1:c.1350A>C	ENSP00000512057.1:p.Val450=
ENST00000308731.8:c.1878A>C MANE Select	ENSP00000308176.8:p.Val626=
ENST00000308731.7:c.1878A>C	ENSP00000308176.7:p.Val626=
ENST00000372880.5:c.1350A>C	ENSP00000361971.1:p.Val450=
ENST00000470069.1:n.243A>C
ENST00000618050.4:c.1877A>C	ENSP00000479125.1:n.1877A>C
ENST00000621635.4:c.1980A>C	ENSP00000483570.1:p.Val660=
NM_000061.2:c.1878A>C , LRG_128t1:c.1878A>C	NP_000052.1:p.Val626=
NM_001287344.1:c.1980A>C	NP_001274273.1:p.Val660=
NM_001287345.1:c.1350A>C	NP_001274274.1:p.Val450=
NM_000061.3:c.1878A>C MANE Select	NP_000052.1:p.Val626=
NM_001287344.2:c.1980A>C	NP_001274273.1:p.Val660=
NM_001287345.2:c.1350A>C	NP_001274274.1:p.Val450=