Canonical Allele Identifier: CA517529757

Gene: BTK

Linked Data

• gnomAD v4: X-101353326-G-A
• MyVariant Identifiers: chrX:g.100608314G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101353326G>A , CM000685.2:g.101353326G>A	GRCh38
NC_000023.10:g.100608314G>A , CM000685.1:g.100608314G>A	GRCh37
NC_000023.9:g.100494970G>A	NCBI36
NG_009616.1:g.37899C>T , LRG_128:g.37899C>T
NG_011734.1:g.644C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478995.2:n.3293C>T
ENST00000488970.2:n.3932C>T
ENST00000695614.1:c.1776C>T	ENSP00000512053.1:p.Ser592=
ENST00000695615.1:c.1776C>T	ENSP00000512054.1:p.Ser592=
ENST00000695616.1:c.*1621C>T	ENSP00000512055.1:n.*1621C>T
ENST00000695617.1:c.1773C>T	ENSP00000512056.1:p.Ser591=
ENST00000695618.1:c.*1525C>T	ENSP00000512058.1:n.*1525C>T
ENST00000695619.1:c.*1486C>T	ENSP00000512059.1:n.*1486C>T
ENST00000695620.1:c.*1702C>T	ENSP00000512060.1:n.*1702C>T
ENST00000695621.1:c.*201C>T	ENSP00000512061.1:n.*201C>T
ENST00000695622.1:c.1713C>T	ENSP00000512062.1:p.Ser571=
ENST00000695623.1:c.1770C>T	ENSP00000512063.1:p.Ser590=
ENST00000695624.1:n.1081C>T
ENST00000695625.1:c.1776C>T	ENSP00000512064.1:p.Ser592=
ENST00000695626.1:c.531C>T	ENSP00000512065.1:n.531C>T
ENST00000695627.1:c.724C>T	ENSP00000512066.1:n.724C>T
ENST00000695628.1:c.335C>T	ENSP00000512067.1:n.335C>T
ENST00000695629.1:c.216C>T	ENSP00000512068.1:p.Ser72=
ENST00000695630.1:c.503C>T
ENST00000695631.1:c.115-78C>T
ENST00000703407.1:c.1248C>T	ENSP00000512057.1:p.Ser416=
ENST00000308731.8:c.1776C>T MANE Select	ENSP00000308176.8:p.Ser592=
ENST00000308731.7:c.1776C>T	ENSP00000308176.7:p.Ser592=
ENST00000372880.5:c.1248C>T	ENSP00000361971.1:p.Ser416=
ENST00000470069.1:n.141C>T
ENST00000488970.1:n.378C>T
ENST00000618050.4:c.1775C>T	ENSP00000479125.1:n.1775C>T
ENST00000621635.4:c.1878C>T	ENSP00000483570.1:p.Ser626=
NM_000061.2:c.1776C>T , LRG_128t1:c.1776C>T	NP_000052.1:p.Ser592=
NM_001287344.1:c.1878C>T	NP_001274273.1:p.Ser626=
NM_001287345.1:c.1248C>T	NP_001274274.1:p.Ser416=
NM_000061.3:c.1776C>T MANE Select	NP_000052.1:p.Ser592=
NM_001287344.2:c.1878C>T	NP_001274273.1:p.Ser626=
NM_001287345.2:c.1248C>T	NP_001274274.1:p.Ser416=