Canonical Allele Identifier: CA413919135

Gene: BTK

Linked Data

• MyVariant Identifiers: chrX:g.100608278A>C (hg19) ; chrX:g.101353290A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101353290A>C , CM000685.2:g.101353290A>C	GRCh38
NC_000023.10:g.100608278A>C , CM000685.1:g.100608278A>C	GRCh37
NC_000023.9:g.100494934A>C	NCBI36
NG_009616.1:g.37935T>G , LRG_128:g.37935T>G
NG_011734.1:g.680T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000478995.2:n.3329T>G
ENST00000488970.2:n.3968T>G
ENST00000695614.1:c.1812T>G	ENSP00000512053.1:p.Ser604Arg
ENST00000695615.1:c.1812T>G	ENSP00000512054.1:p.Ser604Arg
ENST00000695616.1:c.*1657T>G	ENSP00000512055.1:n.*1657T>G
ENST00000695617.1:c.1809T>G	ENSP00000512056.1:p.Ser603Arg
ENST00000695618.1:c.*1561T>G	ENSP00000512058.1:n.*1561T>G
ENST00000695619.1:c.*1522T>G	ENSP00000512059.1:n.*1522T>G
ENST00000695620.1:c.*1738T>G	ENSP00000512060.1:n.*1738T>G
ENST00000695621.1:c.*237T>G	ENSP00000512061.1:n.*237T>G
ENST00000695622.1:c.1749T>G	ENSP00000512062.1:p.Ser583Arg
ENST00000695623.1:c.1806T>G	ENSP00000512063.1:p.Ser602Arg
ENST00000695624.1:n.1117T>G
ENST00000695625.1:c.1812T>G	ENSP00000512064.1:p.Ser604Arg
ENST00000695626.1:c.567T>G	ENSP00000512065.1:n.567T>G
ENST00000695627.1:c.760T>G	ENSP00000512066.1:n.760T>G
ENST00000695628.1:c.371T>G	ENSP00000512067.1:n.371T>G
ENST00000695629.1:c.252T>G	ENSP00000512068.1:p.Ser84Arg
ENST00000695630.1:c.539T>G
ENST00000695631.1:c.115-42T>G
ENST00000703407.1:c.1284T>G	ENSP00000512057.1:p.Ser428Arg
ENST00000308731.8:c.1812T>G MANE Select	ENSP00000308176.8:p.Ser604Arg
ENST00000308731.7:c.1812T>G	ENSP00000308176.7:p.Ser604Arg
ENST00000372880.5:c.1284T>G	ENSP00000361971.1:p.Ser428Arg
ENST00000470069.1:n.177T>G
ENST00000618050.4:c.1811T>G	ENSP00000479125.1:n.1811T>G
ENST00000621635.4:c.1914T>G	ENSP00000483570.1:p.Ser638Arg
NM_000061.2:c.1812T>G , LRG_128t1:c.1812T>G	NP_000052.1:p.Ser604Arg
NM_001287344.1:c.1914T>G	NP_001274273.1:p.Ser638Arg
NM_001287345.1:c.1284T>G	NP_001274274.1:p.Ser428Arg
NM_000061.3:c.1812T>G MANE Select	NP_000052.1:p.Ser604Arg
NM_001287344.2:c.1914T>G	NP_001274273.1:p.Ser638Arg
NM_001287345.2:c.1284T>G	NP_001274274.1:p.Ser428Arg