Canonical Allele Identifier: CA413918865

Gene: BTK

Linked Data

• MyVariant Identifiers: chrX:g.100608244G>A (hg19) ; chrX:g.101353256G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101353256G>A , CM000685.2:g.101353256G>A	GRCh38
NC_000023.10:g.100608244G>A , CM000685.1:g.100608244G>A	GRCh37
NC_000023.9:g.100494900G>A	NCBI36
NG_009616.1:g.37969C>T , LRG_128:g.37969C>T
NG_011734.1:g.714C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478995.2:n.3363C>T
ENST00000488970.2:n.4002C>T
ENST00000695614.1:c.1846C>T	ENSP00000512053.1:p.Leu616Phe
ENST00000695615.1:c.1846C>T	ENSP00000512054.1:p.Leu616Phe
ENST00000695616.1:c.*1691C>T	ENSP00000512055.1:n.*1691C>T
ENST00000695617.1:c.1843C>T	ENSP00000512056.1:p.Leu615Phe
ENST00000695618.1:c.*1595C>T	ENSP00000512058.1:n.*1595C>T
ENST00000695619.1:c.*1556C>T	ENSP00000512059.1:n.*1556C>T
ENST00000695620.1:c.*1772C>T	ENSP00000512060.1:n.*1772C>T
ENST00000695621.1:c.*271C>T	ENSP00000512061.1:n.*271C>T
ENST00000695622.1:c.1783C>T	ENSP00000512062.1:p.Leu595Phe
ENST00000695623.1:c.1840C>T	ENSP00000512063.1:p.Leu614Phe
ENST00000695624.1:n.1151C>T
ENST00000695625.1:c.1846C>T	ENSP00000512064.1:p.Leu616Phe
ENST00000695626.1:c.601C>T	ENSP00000512065.1:n.601C>T
ENST00000695627.1:c.794C>T	ENSP00000512066.1:n.794C>T
ENST00000695628.1:c.405C>T	ENSP00000512067.1:n.405C>T
ENST00000695629.1:c.286C>T	ENSP00000512068.1:p.Leu96Phe
ENST00000695630.1:c.573C>T
ENST00000695631.1:c.115-8C>T
ENST00000703407.1:c.1318C>T	ENSP00000512057.1:p.Leu440Phe
ENST00000308731.8:c.1846C>T MANE Select	ENSP00000308176.8:p.Leu616Phe
ENST00000308731.7:c.1846C>T	ENSP00000308176.7:p.Leu616Phe
ENST00000372880.5:c.1318C>T	ENSP00000361971.1:p.Leu440Phe
ENST00000470069.1:n.211C>T
ENST00000618050.4:c.1845C>T	ENSP00000479125.1:n.1845C>T
ENST00000621635.4:c.1948C>T	ENSP00000483570.1:p.Leu650Phe
NM_000061.2:c.1846C>T , LRG_128t1:c.1846C>T	NP_000052.1:p.Leu616Phe
NM_001287344.1:c.1948C>T	NP_001274273.1:p.Leu650Phe
NM_001287345.1:c.1318C>T	NP_001274274.1:p.Leu440Phe
NM_000061.3:c.1846C>T MANE Select	NP_000052.1:p.Leu616Phe
NM_001287344.2:c.1948C>T	NP_001274273.1:p.Leu650Phe
NM_001287345.2:c.1318C>T	NP_001274274.1:p.Leu440Phe