Canonical Allele Identifier: CA517529587

Gene: BTK

Linked Data

• MyVariant Identifiers: chrX:g.100608233A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101353245A>G , CM000685.2:g.101353245A>G	GRCh38
NC_000023.10:g.100608233A>G , CM000685.1:g.100608233A>G	GRCh37
NC_000023.9:g.100494889A>G	NCBI36
NG_009616.1:g.37980T>C , LRG_128:g.37980T>C
NG_011734.1:g.725T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478995.2:n.3374T>C
ENST00000488970.2:n.4013T>C
ENST00000695614.1:c.1857T>C	ENSP00000512053.1:p.Pro619=
ENST00000695615.1:c.1857T>C	ENSP00000512054.1:p.Pro619=
ENST00000695616.1:c.*1702T>C	ENSP00000512055.1:n.*1702T>C
ENST00000695617.1:c.1854T>C	ENSP00000512056.1:p.Pro618=
ENST00000695618.1:c.*1606T>C	ENSP00000512058.1:n.*1606T>C
ENST00000695619.1:c.*1567T>C	ENSP00000512059.1:n.*1567T>C
ENST00000695620.1:c.*1783T>C	ENSP00000512060.1:n.*1783T>C
ENST00000695621.1:c.*282T>C	ENSP00000512061.1:n.*282T>C
ENST00000695622.1:c.1794T>C	ENSP00000512062.1:p.Pro598=
ENST00000695623.1:c.1851T>C	ENSP00000512063.1:p.Pro617=
ENST00000695624.1:n.1162T>C
ENST00000695625.1:c.1857T>C	ENSP00000512064.1:p.Pro619=
ENST00000695626.1:c.612T>C	ENSP00000512065.1:n.612T>C
ENST00000695627.1:c.805T>C	ENSP00000512066.1:n.805T>C
ENST00000695628.1:c.416T>C	ENSP00000512067.1:n.416T>C
ENST00000695629.1:c.297T>C	ENSP00000512068.1:p.Pro99=
ENST00000695630.1:c.584T>C
ENST00000695631.1:c.118T>C
ENST00000703407.1:c.1329T>C	ENSP00000512057.1:p.Pro443=
ENST00000308731.8:c.1857T>C MANE Select	ENSP00000308176.8:p.Pro619=
ENST00000308731.7:c.1857T>C	ENSP00000308176.7:p.Pro619=
ENST00000372880.5:c.1329T>C	ENSP00000361971.1:p.Pro443=
ENST00000470069.1:n.222T>C
ENST00000618050.4:c.1856T>C	ENSP00000479125.1:n.1856T>C
ENST00000621635.4:c.1959T>C	ENSP00000483570.1:p.Pro653=
NM_000061.2:c.1857T>C , LRG_128t1:c.1857T>C	NP_000052.1:p.Pro619=
NM_001287344.1:c.1959T>C	NP_001274273.1:p.Pro653=
NM_001287345.1:c.1329T>C	NP_001274274.1:p.Pro443=
NM_000061.3:c.1857T>C MANE Select	NP_000052.1:p.Pro619=
NM_001287344.2:c.1959T>C	NP_001274273.1:p.Pro653=
NM_001287345.2:c.1329T>C	NP_001274274.1:p.Pro443=