Canonical Allele Identifier: CA413918933

Gene: BTK

Linked Data

• MyVariant Identifiers: chrX:g.100608253C>T (hg19) ; chrX:g.101353265C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101353265C>T , CM000685.2:g.101353265C>T	GRCh38
NC_000023.10:g.100608253C>T , CM000685.1:g.100608253C>T	GRCh37
NC_000023.9:g.100494909C>T	NCBI36
NG_009616.1:g.37960G>A , LRG_128:g.37960G>A
NG_011734.1:g.705G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478995.2:n.3354G>A
ENST00000488970.2:n.3993G>A
ENST00000695614.1:c.1837G>A	ENSP00000512053.1:p.Gly613Ser
ENST00000695615.1:c.1837G>A	ENSP00000512054.1:p.Gly613Ser
ENST00000695616.1:c.*1682G>A	ENSP00000512055.1:n.*1682G>A
ENST00000695617.1:c.1834G>A	ENSP00000512056.1:p.Gly612Ser
ENST00000695618.1:c.*1586G>A	ENSP00000512058.1:n.*1586G>A
ENST00000695619.1:c.*1547G>A	ENSP00000512059.1:n.*1547G>A
ENST00000695620.1:c.*1763G>A	ENSP00000512060.1:n.*1763G>A
ENST00000695621.1:c.*262G>A	ENSP00000512061.1:n.*262G>A
ENST00000695622.1:c.1774G>A	ENSP00000512062.1:p.Gly592Ser
ENST00000695623.1:c.1831G>A	ENSP00000512063.1:p.Gly611Ser
ENST00000695624.1:n.1142G>A
ENST00000695625.1:c.1837G>A	ENSP00000512064.1:p.Gly613Ser
ENST00000695626.1:c.592G>A	ENSP00000512065.1:n.592G>A
ENST00000695627.1:c.785G>A	ENSP00000512066.1:n.785G>A
ENST00000695628.1:c.396G>A	ENSP00000512067.1:n.396G>A
ENST00000695629.1:c.277G>A	ENSP00000512068.1:p.Gly93Ser
ENST00000695630.1:c.564G>A
ENST00000695631.1:c.115-17G>A
ENST00000703407.1:c.1309G>A	ENSP00000512057.1:p.Gly437Ser
ENST00000308731.8:c.1837G>A MANE Select	ENSP00000308176.8:p.Gly613Ser
ENST00000308731.7:c.1837G>A	ENSP00000308176.7:p.Gly613Ser
ENST00000372880.5:c.1309G>A	ENSP00000361971.1:p.Gly437Ser
ENST00000470069.1:n.202G>A
ENST00000618050.4:c.1836G>A	ENSP00000479125.1:n.1836G>A
ENST00000621635.4:c.1939G>A	ENSP00000483570.1:p.Gly647Ser
NM_000061.2:c.1837G>A , LRG_128t1:c.1837G>A	NP_000052.1:p.Gly613Ser
NM_001287344.1:c.1939G>A	NP_001274273.1:p.Gly647Ser
NM_001287345.1:c.1309G>A	NP_001274274.1:p.Gly437Ser
NM_000061.3:c.1837G>A MANE Select	NP_000052.1:p.Gly613Ser
NM_001287344.2:c.1939G>A	NP_001274273.1:p.Gly647Ser
NM_001287345.2:c.1309G>A	NP_001274274.1:p.Gly437Ser