Canonical Allele Identifier: CA413918741

Gene: BTK

Linked Data

• MyVariant Identifiers: chrX:g.100608229G>T (hg19) ; chrX:g.101353241G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101353241G>T , CM000685.2:g.101353241G>T	GRCh38
NC_000023.10:g.100608229G>T , CM000685.1:g.100608229G>T	GRCh37
NC_000023.9:g.100494885G>T	NCBI36
NG_009616.1:g.37984C>A , LRG_128:g.37984C>A
NG_011734.1:g.729C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478995.2:n.3378C>A
ENST00000488970.2:n.4017C>A
ENST00000695614.1:c.1861C>A	ENSP00000512053.1:p.Leu621Met
ENST00000695615.1:c.1861C>A	ENSP00000512054.1:p.Leu621Met
ENST00000695616.1:c.*1706C>A	ENSP00000512055.1:n.*1706C>A
ENST00000695617.1:c.1858C>A	ENSP00000512056.1:p.Leu620Met
ENST00000695618.1:c.*1610C>A	ENSP00000512058.1:n.*1610C>A
ENST00000695619.1:c.*1571C>A	ENSP00000512059.1:n.*1571C>A
ENST00000695620.1:c.*1787C>A	ENSP00000512060.1:n.*1787C>A
ENST00000695621.1:c.*286C>A	ENSP00000512061.1:n.*286C>A
ENST00000695622.1:c.1798C>A	ENSP00000512062.1:p.Leu600Met
ENST00000695623.1:c.1855C>A	ENSP00000512063.1:p.Leu619Met
ENST00000695624.1:n.1166C>A
ENST00000695625.1:c.1861C>A	ENSP00000512064.1:p.Leu621Met
ENST00000695626.1:c.616C>A	ENSP00000512065.1:n.616C>A
ENST00000695627.1:c.809C>A	ENSP00000512066.1:n.809C>A
ENST00000695628.1:c.420C>A	ENSP00000512067.1:n.420C>A
ENST00000695629.1:c.301C>A	ENSP00000512068.1:p.Leu101Met
ENST00000695630.1:c.588C>A
ENST00000695631.1:c.122C>A
ENST00000703407.1:c.1333C>A	ENSP00000512057.1:p.Leu445Met
ENST00000308731.8:c.1861C>A MANE Select	ENSP00000308176.8:p.Leu621Met
ENST00000308731.7:c.1861C>A	ENSP00000308176.7:p.Leu621Met
ENST00000372880.5:c.1333C>A	ENSP00000361971.1:p.Leu445Met
ENST00000470069.1:n.226C>A
ENST00000618050.4:c.1860C>A	ENSP00000479125.1:n.1860C>A
ENST00000621635.4:c.1963C>A	ENSP00000483570.1:p.Leu655Met
NM_000061.2:c.1861C>A , LRG_128t1:c.1861C>A	NP_000052.1:p.Leu621Met
NM_001287344.1:c.1963C>A	NP_001274273.1:p.Leu655Met
NM_001287345.1:c.1333C>A	NP_001274274.1:p.Leu445Met
NM_000061.3:c.1861C>A MANE Select	NP_000052.1:p.Leu621Met
NM_001287344.2:c.1963C>A	NP_001274273.1:p.Leu655Met
NM_001287345.2:c.1333C>A	NP_001274274.1:p.Leu445Met