Canonical Allele Identifier: CA517531003

Gene: BTK

Linked Data

• MyVariant Identifiers: chrX:g.100608925G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101353937G>T , CM000685.2:g.101353937G>T	GRCh38
NC_000023.10:g.100608925G>T , CM000685.1:g.100608925G>T	GRCh37
NC_000023.9:g.100495581G>T	NCBI36
NG_009616.1:g.37288C>A , LRG_128:g.37288C>A
NG_011734.1:g.33C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478995.2:n.3200C>A
ENST00000488970.2:n.3839C>A
ENST00000695614.1:c.1683C>A	ENSP00000512053.1:p.Val561=
ENST00000695615.1:c.1683C>A	ENSP00000512054.1:p.Val561=
ENST00000695616.1:c.*1528C>A	ENSP00000512055.1:n.*1528C>A
ENST00000695617.1:c.1680C>A	ENSP00000512056.1:p.Val560=
ENST00000695618.1:c.*1432C>A	ENSP00000512058.1:n.*1432C>A
ENST00000695619.1:c.*1393C>A	ENSP00000512059.1:n.*1393C>A
ENST00000695620.1:c.*1609C>A	ENSP00000512060.1:n.*1609C>A
ENST00000695621.1:c.*108C>A	ENSP00000512061.1:n.*108C>A
ENST00000695622.1:c.1620C>A	ENSP00000512062.1:p.Val540=
ENST00000695623.1:c.1677C>A	ENSP00000512063.1:p.Val559=
ENST00000695624.1:n.988C>A
ENST00000695625.1:c.1683C>A	ENSP00000512064.1:p.Val561=
ENST00000695626.1:c.438C>A	ENSP00000512065.1:n.438C>A
ENST00000695627.1:c.631C>A	ENSP00000512066.1:n.631C>A
ENST00000695628.1:c.242C>A	ENSP00000512067.1:n.242C>A
ENST00000695629.1:c.191-586C>A	ENSP00000512068.1:n.191-586C>A
ENST00000695630.1:c.410C>A
ENST00000695631.1:c.115-689C>A
ENST00000695632.1:n.483C>A
ENST00000703407.1:c.1155C>A	ENSP00000512057.1:p.Val385=
ENST00000308731.8:c.1683C>A MANE Select	ENSP00000308176.8:p.Val561=
ENST00000308731.7:c.1683C>A	ENSP00000308176.7:p.Val561=
ENST00000372880.5:c.1155C>A	ENSP00000361971.1:p.Val385=
ENST00000470069.1:n.48C>A
ENST00000488970.1:n.285C>A
ENST00000618050.4:c.1683C>A	ENSP00000479125.1:p.Val561=
ENST00000621635.4:c.1785C>A	ENSP00000483570.1:p.Val595=
NM_000061.2:c.1683C>A , LRG_128t1:c.1683C>A	NP_000052.1:p.Val561=
NM_001287344.1:c.1785C>A	NP_001274273.1:p.Val595=
NM_001287345.1:c.1155C>A	NP_001274274.1:p.Val385=
NM_000061.3:c.1683C>A MANE Select	NP_000052.1:p.Val561=
NM_001287344.2:c.1785C>A	NP_001274273.1:p.Val595=
NM_001287345.2:c.1155C>A	NP_001274274.1:p.Val385=