Canonical Allele Identifier: CA413920301

Gene: BTK

Linked Data

• MyVariant Identifiers: chrX:g.100608901C>A (hg19) ; chrX:g.101353913C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101353913C>A , CM000685.2:g.101353913C>A	GRCh38
NC_000023.10:g.100608901C>A , CM000685.1:g.100608901C>A	GRCh37
NC_000023.9:g.100495557C>A	NCBI36
NG_009616.1:g.37312G>T , LRG_128:g.37312G>T
NG_011734.1:g.57G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478995.2:n.3224G>T
ENST00000488970.2:n.3863G>T
ENST00000695614.1:c.1707G>T	ENSP00000512053.1:p.Leu569=
ENST00000695615.1:c.1707G>T	ENSP00000512054.1:p.Leu569=
ENST00000695616.1:c.*1552G>T	ENSP00000512055.1:n.*1552G>T
ENST00000695617.1:c.1704G>T	ENSP00000512056.1:p.Leu568=
ENST00000695618.1:c.*1456G>T	ENSP00000512058.1:n.*1456G>T
ENST00000695619.1:c.*1417G>T	ENSP00000512059.1:n.*1417G>T
ENST00000695620.1:c.*1633G>T	ENSP00000512060.1:n.*1633G>T
ENST00000695621.1:c.*132G>T	ENSP00000512061.1:n.*132G>T
ENST00000695622.1:c.1644G>T	ENSP00000512062.1:p.Leu548=
ENST00000695623.1:c.1701G>T	ENSP00000512063.1:p.Leu567=
ENST00000695624.1:n.1012G>T
ENST00000695625.1:c.1707G>T	ENSP00000512064.1:p.Leu569=
ENST00000695626.1:c.462G>T	ENSP00000512065.1:n.462G>T
ENST00000695627.1:c.655G>T	ENSP00000512066.1:n.655G>T
ENST00000695628.1:c.266G>T	ENSP00000512067.1:n.266G>T
ENST00000695629.1:c.191-562G>T	ENSP00000512068.1:n.191-562G>T
ENST00000695630.1:c.434G>T
ENST00000695631.1:c.115-665G>T
ENST00000695632.1:n.507G>T
ENST00000703407.1:c.1179G>T	ENSP00000512057.1:p.Leu393=
ENST00000308731.8:c.1707G>T MANE Select	ENSP00000308176.8:p.Leu569=
ENST00000308731.7:c.1707G>T	ENSP00000308176.7:p.Leu569=
ENST00000372880.5:c.1179G>T	ENSP00000361971.1:p.Leu393=
ENST00000470069.1:n.72G>T
ENST00000488970.1:n.309G>T
ENST00000618050.4:c.1706G>T	ENSP00000479125.1:p.Ter569Leu
ENST00000621635.4:c.1809G>T	ENSP00000483570.1:p.Leu603=
NM_000061.2:c.1707G>T , LRG_128t1:c.1707G>T	NP_000052.1:p.Leu569=
NM_001287344.1:c.1809G>T	NP_001274273.1:p.Leu603=
NM_001287345.1:c.1179G>T	NP_001274274.1:p.Leu393=
NM_000061.3:c.1707G>T MANE Select	NP_000052.1:p.Leu569=
NM_001287344.2:c.1809G>T	NP_001274273.1:p.Leu603=
NM_001287345.2:c.1179G>T	NP_001274274.1:p.Leu393=