Canonical Allele Identifier: CA413920294

Gene: BTK

Linked Data

• MyVariant Identifiers: chrX:g.100608900T>A (hg19) ; chrX:g.101353912T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101353912T>A , CM000685.2:g.101353912T>A	GRCh38
NC_000023.10:g.100608900T>A , CM000685.1:g.100608900T>A	GRCh37
NC_000023.9:g.100495556T>A	NCBI36
NG_009616.1:g.37313A>T , LRG_128:g.37313A>T
NG_011734.1:g.58A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478995.2:n.3225A>T
ENST00000488970.2:n.3864A>T
ENST00000695614.1:c.1708A>T	ENSP00000512053.1:p.Met570Leu
ENST00000695615.1:c.1708A>T	ENSP00000512054.1:p.Met570Leu
ENST00000695616.1:c.*1553A>T	ENSP00000512055.1:n.*1553A>T
ENST00000695617.1:c.1705A>T	ENSP00000512056.1:p.Met569Leu
ENST00000695618.1:c.*1457A>T	ENSP00000512058.1:n.*1457A>T
ENST00000695619.1:c.*1418A>T	ENSP00000512059.1:n.*1418A>T
ENST00000695620.1:c.*1634A>T	ENSP00000512060.1:n.*1634A>T
ENST00000695621.1:c.*133A>T	ENSP00000512061.1:n.*133A>T
ENST00000695622.1:c.1645A>T	ENSP00000512062.1:p.Met549Leu
ENST00000695623.1:c.1702A>T	ENSP00000512063.1:p.Met568Leu
ENST00000695624.1:n.1013A>T
ENST00000695625.1:c.1708A>T	ENSP00000512064.1:p.Met570Leu
ENST00000695626.1:c.463A>T	ENSP00000512065.1:n.463A>T
ENST00000695627.1:c.656A>T	ENSP00000512066.1:n.656A>T
ENST00000695628.1:c.267A>T	ENSP00000512067.1:n.267A>T
ENST00000695629.1:c.191-561A>T	ENSP00000512068.1:n.191-561A>T
ENST00000695630.1:c.435A>T
ENST00000695631.1:c.115-664A>T
ENST00000695632.1:n.508A>T
ENST00000703407.1:c.1180A>T	ENSP00000512057.1:p.Met394Leu
ENST00000308731.8:c.1708A>T MANE Select	ENSP00000308176.8:p.Met570Leu
ENST00000308731.7:c.1708A>T	ENSP00000308176.7:p.Met570Leu
ENST00000372880.5:c.1180A>T	ENSP00000361971.1:p.Met394Leu
ENST00000470069.1:n.73A>T
ENST00000488970.1:n.310A>T
ENST00000618050.4:c.1707A>T	ENSP00000479125.1:p.Ter569Cys
ENST00000621635.4:c.1810A>T	ENSP00000483570.1:p.Met604Leu
NM_000061.2:c.1708A>T , LRG_128t1:c.1708A>T	NP_000052.1:p.Met570Leu
NM_001287344.1:c.1810A>T	NP_001274273.1:p.Met604Leu
NM_001287345.1:c.1180A>T	NP_001274274.1:p.Met394Leu
NM_000061.3:c.1708A>T MANE Select	NP_000052.1:p.Met570Leu
NM_001287344.2:c.1810A>T	NP_001274273.1:p.Met604Leu
NM_001287345.2:c.1180A>T	NP_001274274.1:p.Met394Leu