Canonical Allele Identifier: CA517529511

Gene: BTK

Linked Data

• gnomAD v4: X-101353221-A-G
• MyVariant Identifiers: chrX:g.100608209A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101353221A>G , CM000685.2:g.101353221A>G	GRCh38
NC_000023.10:g.100608209A>G , CM000685.1:g.100608209A>G	GRCh37
NC_000023.9:g.100494865A>G	NCBI36
NG_009616.1:g.38004T>C , LRG_128:g.38004T>C
NG_011734.1:g.749T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478995.2:n.3398T>C
ENST00000488970.2:n.4037T>C
ENST00000695614.1:c.1881T>C	ENSP00000512053.1:p.Tyr627=
ENST00000695615.1:c.1881T>C	ENSP00000512054.1:p.Tyr627=
ENST00000695616.1:c.*1726T>C	ENSP00000512055.1:n.*1726T>C
ENST00000695617.1:c.1878T>C	ENSP00000512056.1:p.Tyr626=
ENST00000695618.1:c.*1630T>C	ENSP00000512058.1:n.*1630T>C
ENST00000695619.1:c.*1591T>C	ENSP00000512059.1:n.*1591T>C
ENST00000695620.1:c.*1807T>C	ENSP00000512060.1:n.*1807T>C
ENST00000695621.1:c.*306T>C	ENSP00000512061.1:n.*306T>C
ENST00000695622.1:c.1818T>C	ENSP00000512062.1:p.Tyr606=
ENST00000695623.1:c.1875T>C	ENSP00000512063.1:p.Tyr625=
ENST00000695624.1:n.1186T>C
ENST00000695625.1:c.1875+6T>C	ENSP00000512064.1:n.1875+6T>C
ENST00000695626.1:c.636T>C	ENSP00000512065.1:n.636T>C
ENST00000695627.1:c.829T>C	ENSP00000512066.1:n.829T>C
ENST00000695628.1:c.440T>C	ENSP00000512067.1:n.440T>C
ENST00000695629.1:c.321T>C	ENSP00000512068.1:p.Tyr107=
ENST00000695630.1:c.608T>C
ENST00000695631.1:c.142T>C
ENST00000703407.1:c.1353T>C	ENSP00000512057.1:p.Tyr451=
ENST00000308731.8:c.1881T>C MANE Select	ENSP00000308176.8:p.Tyr627=
ENST00000308731.7:c.1881T>C	ENSP00000308176.7:p.Tyr627=
ENST00000372880.5:c.1353T>C	ENSP00000361971.1:p.Tyr451=
ENST00000470069.1:n.246T>C
ENST00000618050.4:c.1880T>C	ENSP00000479125.1:n.1880T>C
ENST00000621635.4:c.1983T>C	ENSP00000483570.1:p.Tyr661=
NM_000061.2:c.1881T>C , LRG_128t1:c.1881T>C	NP_000052.1:p.Tyr627=
NM_001287344.1:c.1983T>C	NP_001274273.1:p.Tyr661=
NM_001287345.1:c.1353T>C	NP_001274274.1:p.Tyr451=
NM_000061.3:c.1881T>C MANE Select	NP_000052.1:p.Tyr627=
NM_001287344.2:c.1983T>C	NP_001274273.1:p.Tyr661=
NM_001287345.2:c.1353T>C	NP_001274274.1:p.Tyr451=