Canonical Allele Identifier: CA413918627

Gene: BTK

Linked Data

• MyVariant Identifiers: chrX:g.100608215C>A (hg19) ; chrX:g.101353227C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101353227C>A , CM000685.2:g.101353227C>A	GRCh38
NC_000023.10:g.100608215C>A , CM000685.1:g.100608215C>A	GRCh37
NC_000023.9:g.100494871C>A	NCBI36
NG_009616.1:g.37998G>T , LRG_128:g.37998G>T
NG_011734.1:g.743G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478995.2:n.3392G>T
ENST00000488970.2:n.4031G>T
ENST00000695614.1:c.1875G>T	ENSP00000512053.1:p.Lys625Asn
ENST00000695615.1:c.1875G>T	ENSP00000512054.1:p.Lys625Asn
ENST00000695616.1:c.*1720G>T	ENSP00000512055.1:n.*1720G>T
ENST00000695617.1:c.1872G>T	ENSP00000512056.1:p.Lys624Asn
ENST00000695618.1:c.*1624G>T	ENSP00000512058.1:n.*1624G>T
ENST00000695619.1:c.*1585G>T	ENSP00000512059.1:n.*1585G>T
ENST00000695620.1:c.*1801G>T	ENSP00000512060.1:n.*1801G>T
ENST00000695621.1:c.*300G>T	ENSP00000512061.1:n.*300G>T
ENST00000695622.1:c.1812G>T	ENSP00000512062.1:p.Lys604Asn
ENST00000695623.1:c.1869G>T	ENSP00000512063.1:p.Lys623Asn
ENST00000695624.1:n.1180G>T
ENST00000695625.1:c.1875G>T	ENSP00000512064.1:p.Lys625Asn
ENST00000695626.1:c.630G>T	ENSP00000512065.1:n.630G>T
ENST00000695627.1:c.823G>T	ENSP00000512066.1:n.823G>T
ENST00000695628.1:c.434G>T	ENSP00000512067.1:n.434G>T
ENST00000695629.1:c.315G>T	ENSP00000512068.1:p.Lys105Asn
ENST00000695630.1:c.602G>T
ENST00000695631.1:c.136G>T
ENST00000703407.1:c.1347G>T	ENSP00000512057.1:p.Lys449Asn
ENST00000308731.8:c.1875G>T MANE Select	ENSP00000308176.8:p.Lys625Asn
ENST00000308731.7:c.1875G>T	ENSP00000308176.7:p.Lys625Asn
ENST00000372880.5:c.1347G>T	ENSP00000361971.1:p.Lys449Asn
ENST00000470069.1:n.240G>T
ENST00000618050.4:c.1874G>T	ENSP00000479125.1:n.1874G>T
ENST00000621635.4:c.1977G>T	ENSP00000483570.1:p.Lys659Asn
NM_000061.2:c.1875G>T , LRG_128t1:c.1875G>T	NP_000052.1:p.Lys625Asn
NM_001287344.1:c.1977G>T	NP_001274273.1:p.Lys659Asn
NM_001287345.1:c.1347G>T	NP_001274274.1:p.Lys449Asn
NM_000061.3:c.1875G>T MANE Select	NP_000052.1:p.Lys625Asn
NM_001287344.2:c.1977G>T	NP_001274273.1:p.Lys659Asn
NM_001287345.2:c.1347G>T	NP_001274274.1:p.Lys449Asn