Canonical Allele Identifier: CA413918781

Gene: BTK

Linked Data

• MyVariant Identifiers: chrX:g.100608235G>T (hg19) ; chrX:g.101353247G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101353247G>T , CM000685.2:g.101353247G>T	GRCh38
NC_000023.10:g.100608235G>T , CM000685.1:g.100608235G>T	GRCh37
NC_000023.9:g.100494891G>T	NCBI36
NG_009616.1:g.37978C>A , LRG_128:g.37978C>A
NG_011734.1:g.723C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478995.2:n.3372C>A
ENST00000488970.2:n.4011C>A
ENST00000695614.1:c.1855C>A	ENSP00000512053.1:p.Pro619Thr
ENST00000695615.1:c.1855C>A	ENSP00000512054.1:p.Pro619Thr
ENST00000695616.1:c.*1700C>A	ENSP00000512055.1:n.*1700C>A
ENST00000695617.1:c.1852C>A	ENSP00000512056.1:p.Pro618Thr
ENST00000695618.1:c.*1604C>A	ENSP00000512058.1:n.*1604C>A
ENST00000695619.1:c.*1565C>A	ENSP00000512059.1:n.*1565C>A
ENST00000695620.1:c.*1781C>A	ENSP00000512060.1:n.*1781C>A
ENST00000695621.1:c.*280C>A	ENSP00000512061.1:n.*280C>A
ENST00000695622.1:c.1792C>A	ENSP00000512062.1:p.Pro598Thr
ENST00000695623.1:c.1849C>A	ENSP00000512063.1:p.Pro617Thr
ENST00000695624.1:n.1160C>A
ENST00000695625.1:c.1855C>A	ENSP00000512064.1:p.Pro619Thr
ENST00000695626.1:c.610C>A	ENSP00000512065.1:n.610C>A
ENST00000695627.1:c.803C>A	ENSP00000512066.1:n.803C>A
ENST00000695628.1:c.414C>A	ENSP00000512067.1:n.414C>A
ENST00000695629.1:c.295C>A	ENSP00000512068.1:p.Pro99Thr
ENST00000695630.1:c.582C>A
ENST00000695631.1:c.116C>A
ENST00000703407.1:c.1327C>A	ENSP00000512057.1:p.Pro443Thr
ENST00000308731.8:c.1855C>A MANE Select	ENSP00000308176.8:p.Pro619Thr
ENST00000308731.7:c.1855C>A	ENSP00000308176.7:p.Pro619Thr
ENST00000372880.5:c.1327C>A	ENSP00000361971.1:p.Pro443Thr
ENST00000470069.1:n.220C>A
ENST00000618050.4:c.1854C>A	ENSP00000479125.1:n.1854C>A
ENST00000621635.4:c.1957C>A	ENSP00000483570.1:p.Pro653Thr
NM_000061.2:c.1855C>A , LRG_128t1:c.1855C>A	NP_000052.1:p.Pro619Thr
NM_001287344.1:c.1957C>A	NP_001274273.1:p.Pro653Thr
NM_001287345.1:c.1327C>A	NP_001274274.1:p.Pro443Thr
NM_000061.3:c.1855C>A MANE Select	NP_000052.1:p.Pro619Thr
NM_001287344.2:c.1957C>A	NP_001274273.1:p.Pro653Thr
NM_001287345.2:c.1327C>A	NP_001274274.1:p.Pro443Thr