Canonical Allele Identifier: CA517530116

Gene: BTK

Linked Data

• ClinVar Variation Id: 780205
• ClinVar RCV Id: RCV000961244
• dbSNP Id: rs1603002337
• gnomAD v4: X-101353874-A-G
• MyVariant Identifiers: chrX:g.100608862A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101353874A>G , CM000685.2:g.101353874A>G	GRCh38
NC_000023.10:g.100608862A>G , CM000685.1:g.100608862A>G	GRCh37
NC_000023.9:g.100495518A>G	NCBI36
NG_009616.1:g.37351T>C , LRG_128:g.37351T>C
NG_011734.1:g.96T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478995.2:n.3263T>C
ENST00000488970.2:n.3902T>C
ENST00000695614.1:c.1746T>C	ENSP00000512053.1:p.Ala582=
ENST00000695615.1:c.1746T>C	ENSP00000512054.1:p.Ala582=
ENST00000695616.1:c.*1591T>C	ENSP00000512055.1:n.*1591T>C
ENST00000695617.1:c.1743T>C	ENSP00000512056.1:p.Ala581=
ENST00000695618.1:c.*1495T>C	ENSP00000512058.1:n.*1495T>C
ENST00000695619.1:c.*1456T>C	ENSP00000512059.1:n.*1456T>C
ENST00000695620.1:c.*1672T>C	ENSP00000512060.1:n.*1672T>C
ENST00000695621.1:c.*171T>C	ENSP00000512061.1:n.*171T>C
ENST00000695622.1:c.1683T>C	ENSP00000512062.1:p.Ala561=
ENST00000695623.1:c.1740T>C	ENSP00000512063.1:p.Ala580=
ENST00000695624.1:n.1051T>C
ENST00000695625.1:c.1746T>C	ENSP00000512064.1:p.Ala582=
ENST00000695626.1:c.501T>C	ENSP00000512065.1:n.501T>C
ENST00000695627.1:c.694T>C	ENSP00000512066.1:n.694T>C
ENST00000695628.1:c.305T>C	ENSP00000512067.1:n.305T>C
ENST00000695629.1:c.191-523T>C	ENSP00000512068.1:n.191-523T>C
ENST00000695630.1:c.473T>C
ENST00000695631.1:c.115-626T>C
ENST00000703407.1:c.1218T>C	ENSP00000512057.1:p.Ala406=
ENST00000308731.8:c.1746T>C MANE Select	ENSP00000308176.8:p.Ala582=
ENST00000308731.7:c.1746T>C	ENSP00000308176.7:p.Ala582=
ENST00000372880.5:c.1218T>C	ENSP00000361971.1:p.Ala406=
ENST00000470069.1:n.111T>C
ENST00000488970.1:n.348T>C
ENST00000618050.4:c.1745T>C	ENSP00000479125.1:n.1745T>C
ENST00000621635.4:c.1848T>C	ENSP00000483570.1:p.Ala616=
NM_000061.2:c.1746T>C , LRG_128t1:c.1746T>C	NP_000052.1:p.Ala582=
NM_001287344.1:c.1848T>C	NP_001274273.1:p.Ala616=
NM_001287345.1:c.1218T>C	NP_001274274.1:p.Ala406=
NM_000061.3:c.1746T>C MANE Select	NP_000052.1:p.Ala582=
NM_001287344.2:c.1848T>C	NP_001274273.1:p.Ala616=
NM_001287345.2:c.1218T>C	NP_001274274.1:p.Ala406=