Canonical Allele Identifier: CA413919385

Gene: BTK

Linked Data

• MyVariant Identifiers: chrX:g.100608304T>G (hg19) ; chrX:g.101353316T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101353316T>G , CM000685.2:g.101353316T>G	GRCh38
NC_000023.10:g.100608304T>G , CM000685.1:g.100608304T>G	GRCh37
NC_000023.9:g.100494960T>G	NCBI36
NG_009616.1:g.37909A>C , LRG_128:g.37909A>C
NG_011734.1:g.654A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478995.2:n.3303A>C
ENST00000488970.2:n.3942A>C
ENST00000695614.1:c.1786A>C	ENSP00000512053.1:p.Met596Leu
ENST00000695615.1:c.1786A>C	ENSP00000512054.1:p.Met596Leu
ENST00000695616.1:c.*1631A>C	ENSP00000512055.1:n.*1631A>C
ENST00000695617.1:c.1783A>C	ENSP00000512056.1:p.Met595Leu
ENST00000695618.1:c.*1535A>C	ENSP00000512058.1:n.*1535A>C
ENST00000695619.1:c.*1496A>C	ENSP00000512059.1:n.*1496A>C
ENST00000695620.1:c.*1712A>C	ENSP00000512060.1:n.*1712A>C
ENST00000695621.1:c.*211A>C	ENSP00000512061.1:n.*211A>C
ENST00000695622.1:c.1723A>C	ENSP00000512062.1:p.Met575Leu
ENST00000695623.1:c.1780A>C	ENSP00000512063.1:p.Met594Leu
ENST00000695624.1:n.1091A>C
ENST00000695625.1:c.1786A>C	ENSP00000512064.1:p.Met596Leu
ENST00000695626.1:c.541A>C	ENSP00000512065.1:n.541A>C
ENST00000695627.1:c.734A>C	ENSP00000512066.1:n.734A>C
ENST00000695628.1:c.345A>C	ENSP00000512067.1:n.345A>C
ENST00000695629.1:c.226A>C	ENSP00000512068.1:p.Met76Leu
ENST00000695630.1:c.513A>C
ENST00000695631.1:c.115-68A>C
ENST00000703407.1:c.1258A>C	ENSP00000512057.1:p.Met420Leu
ENST00000308731.8:c.1786A>C MANE Select	ENSP00000308176.8:p.Met596Leu
ENST00000308731.7:c.1786A>C	ENSP00000308176.7:p.Met596Leu
ENST00000372880.5:c.1258A>C	ENSP00000361971.1:p.Met420Leu
ENST00000470069.1:n.151A>C
ENST00000618050.4:c.1785A>C	ENSP00000479125.1:n.1785A>C
ENST00000621635.4:c.1888A>C	ENSP00000483570.1:p.Met630Leu
NM_000061.2:c.1786A>C , LRG_128t1:c.1786A>C	NP_000052.1:p.Met596Leu
NM_001287344.1:c.1888A>C	NP_001274273.1:p.Met630Leu
NM_001287345.1:c.1258A>C	NP_001274274.1:p.Met420Leu
NM_000061.3:c.1786A>C MANE Select	NP_000052.1:p.Met596Leu
NM_001287344.2:c.1888A>C	NP_001274273.1:p.Met630Leu
NM_001287345.2:c.1258A>C	NP_001274274.1:p.Met420Leu