Canonical Allele Identifier: CA413921392

Gene: BTK

Linked Data

• dbSNP Id: rs1163361343
• gnomAD v3: X-101353954-C-T
• gnomAD v4: X-101353954-C-T
• MyVariant Identifiers: chrX:g.100608942C>T (hg19) ; chrX:g.101353954C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101353954C>T , CM000685.2:g.101353954C>T	GRCh38
NC_000023.10:g.100608942C>T , CM000685.1:g.100608942C>T	GRCh37
NC_000023.9:g.100495598C>T	NCBI36
NG_009616.1:g.37271G>A , LRG_128:g.37271G>A
NG_011734.1:g.16G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478995.2:n.3183G>A
ENST00000488970.2:n.3822G>A
ENST00000695614.1:c.1666G>A	ENSP00000512053.1:p.Gly556Ser
ENST00000695615.1:c.1666G>A	ENSP00000512054.1:p.Gly556Ser
ENST00000695616.1:c.*1511G>A	ENSP00000512055.1:n.*1511G>A
ENST00000695617.1:c.1663G>A	ENSP00000512056.1:p.Gly555Ser
ENST00000695618.1:c.*1415G>A	ENSP00000512058.1:n.*1415G>A
ENST00000695619.1:c.*1376G>A	ENSP00000512059.1:n.*1376G>A
ENST00000695620.1:c.*1592G>A	ENSP00000512060.1:n.*1592G>A
ENST00000695621.1:c.*91G>A	ENSP00000512061.1:n.*91G>A
ENST00000695622.1:c.1603G>A	ENSP00000512062.1:p.Gly535Ser
ENST00000695623.1:c.1660G>A	ENSP00000512063.1:p.Gly554Ser
ENST00000695624.1:n.971G>A
ENST00000695625.1:c.1666G>A	ENSP00000512064.1:p.Gly556Ser
ENST00000695626.1:c.421G>A	ENSP00000512065.1:n.421G>A
ENST00000695627.1:c.614G>A	ENSP00000512066.1:n.614G>A
ENST00000695628.1:c.225G>A	ENSP00000512067.1:p.Ter75=
ENST00000695629.1:c.191-603G>A	ENSP00000512068.1:n.191-603G>A
ENST00000695630.1:c.393G>A
ENST00000695631.1:c.115-706G>A
ENST00000695632.1:n.466G>A
ENST00000703407.1:c.1138G>A	ENSP00000512057.1:p.Gly380Ser
ENST00000308731.8:c.1666G>A MANE Select	ENSP00000308176.8:p.Gly556Ser
ENST00000308731.7:c.1666G>A	ENSP00000308176.7:p.Gly556Ser
ENST00000372880.5:c.1138G>A	ENSP00000361971.1:p.Gly380Ser
ENST00000470069.1:n.31G>A
ENST00000488970.1:n.268G>A
ENST00000618050.4:c.1666G>A	ENSP00000479125.1:p.Gly556Ser
ENST00000621635.4:c.1768G>A	ENSP00000483570.1:p.Gly590Ser
NM_000061.2:c.1666G>A , LRG_128t1:c.1666G>A	NP_000052.1:p.Gly556Ser
NM_001287344.1:c.1768G>A	NP_001274273.1:p.Gly590Ser
NM_001287345.1:c.1138G>A	NP_001274274.1:p.Gly380Ser
NM_000061.3:c.1666G>A MANE Select	NP_000052.1:p.Gly556Ser
NM_001287344.2:c.1768G>A	NP_001274273.1:p.Gly590Ser
NM_001287345.2:c.1138G>A	NP_001274274.1:p.Gly380Ser