Canonical Allele Identifier: CA413919196

Gene: BTK

Linked Data

• MyVariant Identifiers: chrX:g.100608285G>T (hg19) ; chrX:g.101353297G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101353297G>T , CM000685.2:g.101353297G>T	GRCh38
NC_000023.10:g.100608285G>T , CM000685.1:g.100608285G>T	GRCh37
NC_000023.9:g.100494941G>T	NCBI36
NG_009616.1:g.37928C>A , LRG_128:g.37928C>A
NG_011734.1:g.673C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478995.2:n.3322C>A
ENST00000488970.2:n.3961C>A
ENST00000695614.1:c.1805C>A	ENSP00000512053.1:p.Thr602Asn
ENST00000695615.1:c.1805C>A	ENSP00000512054.1:p.Thr602Asn
ENST00000695616.1:c.*1650C>A	ENSP00000512055.1:n.*1650C>A
ENST00000695617.1:c.1802C>A	ENSP00000512056.1:p.Thr601Asn
ENST00000695618.1:c.*1554C>A	ENSP00000512058.1:n.*1554C>A
ENST00000695619.1:c.*1515C>A	ENSP00000512059.1:n.*1515C>A
ENST00000695620.1:c.*1731C>A	ENSP00000512060.1:n.*1731C>A
ENST00000695621.1:c.*230C>A	ENSP00000512061.1:n.*230C>A
ENST00000695622.1:c.1742C>A	ENSP00000512062.1:p.Thr581Asn
ENST00000695623.1:c.1799C>A	ENSP00000512063.1:p.Thr600Asn
ENST00000695624.1:n.1110C>A
ENST00000695625.1:c.1805C>A	ENSP00000512064.1:p.Thr602Asn
ENST00000695626.1:c.560C>A	ENSP00000512065.1:n.560C>A
ENST00000695627.1:c.753C>A	ENSP00000512066.1:n.753C>A
ENST00000695628.1:c.364C>A	ENSP00000512067.1:n.364C>A
ENST00000695629.1:c.245C>A	ENSP00000512068.1:p.Thr82Asn
ENST00000695630.1:c.532C>A
ENST00000695631.1:c.115-49C>A
ENST00000703407.1:c.1277C>A	ENSP00000512057.1:p.Thr426Asn
ENST00000308731.8:c.1805C>A MANE Select	ENSP00000308176.8:p.Thr602Asn
ENST00000308731.7:c.1805C>A	ENSP00000308176.7:p.Thr602Asn
ENST00000372880.5:c.1277C>A	ENSP00000361971.1:p.Thr426Asn
ENST00000470069.1:n.170C>A
ENST00000618050.4:c.1804C>A	ENSP00000479125.1:n.1804C>A
ENST00000621635.4:c.1907C>A	ENSP00000483570.1:p.Thr636Asn
NM_000061.2:c.1805C>A , LRG_128t1:c.1805C>A	NP_000052.1:p.Thr602Asn
NM_001287344.1:c.1907C>A	NP_001274273.1:p.Thr636Asn
NM_001287345.1:c.1277C>A	NP_001274274.1:p.Thr426Asn
NM_000061.3:c.1805C>A MANE Select	NP_000052.1:p.Thr602Asn
NM_001287344.2:c.1907C>A	NP_001274273.1:p.Thr636Asn
NM_001287345.2:c.1277C>A	NP_001274274.1:p.Thr426Asn