Canonical Allele Identifier: CA413918869

Gene: BTK

Linked Data

• MyVariant Identifiers: chrX:g.100608246C>G (hg19) ; chrX:g.101353258C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101353258C>G , CM000685.2:g.101353258C>G	GRCh38
NC_000023.10:g.100608246C>G , CM000685.1:g.100608246C>G	GRCh37
NC_000023.9:g.100494902C>G	NCBI36
NG_009616.1:g.37967G>C , LRG_128:g.37967G>C
NG_011734.1:g.712G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478995.2:n.3361G>C
ENST00000488970.2:n.4000G>C
ENST00000695614.1:c.1844G>C	ENSP00000512053.1:p.Arg615Pro
ENST00000695615.1:c.1844G>C	ENSP00000512054.1:p.Arg615Pro
ENST00000695616.1:c.*1689G>C	ENSP00000512055.1:n.*1689G>C
ENST00000695617.1:c.1841G>C	ENSP00000512056.1:p.Arg614Pro
ENST00000695618.1:c.*1593G>C	ENSP00000512058.1:n.*1593G>C
ENST00000695619.1:c.*1554G>C	ENSP00000512059.1:n.*1554G>C
ENST00000695620.1:c.*1770G>C	ENSP00000512060.1:n.*1770G>C
ENST00000695621.1:c.*269G>C	ENSP00000512061.1:n.*269G>C
ENST00000695622.1:c.1781G>C	ENSP00000512062.1:p.Arg594Pro
ENST00000695623.1:c.1838G>C	ENSP00000512063.1:p.Arg613Pro
ENST00000695624.1:n.1149G>C
ENST00000695625.1:c.1844G>C	ENSP00000512064.1:p.Arg615Pro
ENST00000695626.1:c.599G>C	ENSP00000512065.1:n.599G>C
ENST00000695627.1:c.792G>C	ENSP00000512066.1:n.792G>C
ENST00000695628.1:c.403G>C	ENSP00000512067.1:n.403G>C
ENST00000695629.1:c.284G>C	ENSP00000512068.1:p.Arg95Pro
ENST00000695630.1:c.571G>C
ENST00000695631.1:c.115-10G>C
ENST00000703407.1:c.1316G>C	ENSP00000512057.1:p.Arg439Pro
ENST00000308731.8:c.1844G>C MANE Select	ENSP00000308176.8:p.Arg615Pro
ENST00000308731.7:c.1844G>C	ENSP00000308176.7:p.Arg615Pro
ENST00000372880.5:c.1316G>C	ENSP00000361971.1:p.Arg439Pro
ENST00000470069.1:n.209G>C
ENST00000618050.4:c.1843G>C	ENSP00000479125.1:n.1843G>C
ENST00000621635.4:c.1946G>C	ENSP00000483570.1:p.Arg649Pro
NM_000061.2:c.1844G>C , LRG_128t1:c.1844G>C	NP_000052.1:p.Arg615Pro
NM_001287344.1:c.1946G>C	NP_001274273.1:p.Arg649Pro
NM_001287345.1:c.1316G>C	NP_001274274.1:p.Arg439Pro
NM_000061.3:c.1844G>C MANE Select	NP_000052.1:p.Arg615Pro
NM_001287344.2:c.1946G>C	NP_001274273.1:p.Arg649Pro
NM_001287345.2:c.1316G>C	NP_001274274.1:p.Arg439Pro