Canonical Allele Identifier: CA413919521

Gene: BTK

Linked Data

• MyVariant Identifiers: chrX:g.100608322T>G (hg19) ; chrX:g.101353334T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101353334T>G , CM000685.2:g.101353334T>G	GRCh38
NC_000023.10:g.100608322T>G , CM000685.1:g.100608322T>G	GRCh37
NC_000023.9:g.100494978T>G	NCBI36
NG_009616.1:g.37891A>C , LRG_128:g.37891A>C
NG_011734.1:g.636A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478995.2:n.3285A>C
ENST00000488970.2:n.3924A>C
ENST00000695614.1:c.1768A>C	ENSP00000512053.1:p.Ile590Leu
ENST00000695615.1:c.1768A>C	ENSP00000512054.1:p.Ile590Leu
ENST00000695616.1:c.*1613A>C	ENSP00000512055.1:n.*1613A>C
ENST00000695617.1:c.1765A>C	ENSP00000512056.1:p.Ile589Leu
ENST00000695618.1:c.*1517A>C	ENSP00000512058.1:n.*1517A>C
ENST00000695619.1:c.*1478A>C	ENSP00000512059.1:n.*1478A>C
ENST00000695620.1:c.*1694A>C	ENSP00000512060.1:n.*1694A>C
ENST00000695621.1:c.*193A>C	ENSP00000512061.1:n.*193A>C
ENST00000695622.1:c.1705A>C	ENSP00000512062.1:p.Ile569Leu
ENST00000695623.1:c.1762A>C	ENSP00000512063.1:p.Ile588Leu
ENST00000695624.1:n.1073A>C
ENST00000695625.1:c.1768A>C	ENSP00000512064.1:p.Ile590Leu
ENST00000695626.1:c.523A>C	ENSP00000512065.1:n.523A>C
ENST00000695627.1:c.716A>C	ENSP00000512066.1:n.716A>C
ENST00000695628.1:c.327A>C	ENSP00000512067.1:n.327A>C
ENST00000695629.1:c.208A>C	ENSP00000512068.1:p.Ile70Leu
ENST00000695630.1:c.495A>C
ENST00000695631.1:c.115-86A>C
ENST00000703407.1:c.1240A>C	ENSP00000512057.1:p.Ile414Leu
ENST00000308731.8:c.1768A>C MANE Select	ENSP00000308176.8:p.Ile590Leu
ENST00000308731.7:c.1768A>C	ENSP00000308176.7:p.Ile590Leu
ENST00000372880.5:c.1240A>C	ENSP00000361971.1:p.Ile414Leu
ENST00000470069.1:n.133A>C
ENST00000488970.1:n.370A>C
ENST00000618050.4:c.1767A>C	ENSP00000479125.1:n.1767A>C
ENST00000621635.4:c.1870A>C	ENSP00000483570.1:p.Ile624Leu
NM_000061.2:c.1768A>C , LRG_128t1:c.1768A>C	NP_000052.1:p.Ile590Leu
NM_001287344.1:c.1870A>C	NP_001274273.1:p.Ile624Leu
NM_001287345.1:c.1240A>C	NP_001274274.1:p.Ile414Leu
NM_000061.3:c.1768A>C MANE Select	NP_000052.1:p.Ile590Leu
NM_001287344.2:c.1870A>C	NP_001274273.1:p.Ile624Leu
NM_001287345.2:c.1240A>C	NP_001274274.1:p.Ile414Leu