Canonical Allele Identifier: CA413919004

Gene: BTK

Linked Data

• MyVariant Identifiers: chrX:g.100608264T>A (hg19) ; chrX:g.101353276T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101353276T>A , CM000685.2:g.101353276T>A	GRCh38
NC_000023.10:g.100608264T>A , CM000685.1:g.100608264T>A	GRCh37
NC_000023.9:g.100494920T>A	NCBI36
NG_009616.1:g.37949A>T , LRG_128:g.37949A>T
NG_011734.1:g.694A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478995.2:n.3343A>T
ENST00000488970.2:n.3982A>T
ENST00000695614.1:c.1826A>T	ENSP00000512053.1:p.His609Leu
ENST00000695615.1:c.1826A>T	ENSP00000512054.1:p.His609Leu
ENST00000695616.1:c.*1671A>T	ENSP00000512055.1:n.*1671A>T
ENST00000695617.1:c.1823A>T	ENSP00000512056.1:p.His608Leu
ENST00000695618.1:c.*1575A>T	ENSP00000512058.1:n.*1575A>T
ENST00000695619.1:c.*1536A>T	ENSP00000512059.1:n.*1536A>T
ENST00000695620.1:c.*1752A>T	ENSP00000512060.1:n.*1752A>T
ENST00000695621.1:c.*251A>T	ENSP00000512061.1:n.*251A>T
ENST00000695622.1:c.1763A>T	ENSP00000512062.1:p.His588Leu
ENST00000695623.1:c.1820A>T	ENSP00000512063.1:p.His607Leu
ENST00000695624.1:n.1131A>T
ENST00000695625.1:c.1826A>T	ENSP00000512064.1:p.His609Leu
ENST00000695626.1:c.581A>T	ENSP00000512065.1:n.581A>T
ENST00000695627.1:c.774A>T	ENSP00000512066.1:n.774A>T
ENST00000695628.1:c.385A>T	ENSP00000512067.1:n.385A>T
ENST00000695629.1:c.266A>T	ENSP00000512068.1:p.His89Leu
ENST00000695630.1:c.553A>T
ENST00000695631.1:c.115-28A>T
ENST00000703407.1:c.1298A>T	ENSP00000512057.1:p.His433Leu
ENST00000308731.8:c.1826A>T MANE Select	ENSP00000308176.8:p.His609Leu
ENST00000308731.7:c.1826A>T	ENSP00000308176.7:p.His609Leu
ENST00000372880.5:c.1298A>T	ENSP00000361971.1:p.His433Leu
ENST00000470069.1:n.191A>T
ENST00000618050.4:c.1825A>T	ENSP00000479125.1:n.1825A>T
ENST00000621635.4:c.1928A>T	ENSP00000483570.1:p.His643Leu
NM_000061.2:c.1826A>T , LRG_128t1:c.1826A>T	NP_000052.1:p.His609Leu
NM_001287344.1:c.1928A>T	NP_001274273.1:p.His643Leu
NM_001287345.1:c.1298A>T	NP_001274274.1:p.His433Leu
NM_000061.3:c.1826A>T MANE Select	NP_000052.1:p.His609Leu
NM_001287344.2:c.1928A>T	NP_001274273.1:p.His643Leu
NM_001287345.2:c.1298A>T	NP_001274274.1:p.His433Leu