Canonical Allele Identifier: CA413921335

Gene: BTK

Linked Data

• MyVariant Identifiers: chrX:g.100608932A>G (hg19) ; chrX:g.101353944A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101353944A>G , CM000685.2:g.101353944A>G	GRCh38
NC_000023.10:g.100608932A>G , CM000685.1:g.100608932A>G	GRCh37
NC_000023.9:g.100495588A>G	NCBI36
NG_009616.1:g.37281T>C , LRG_128:g.37281T>C
NG_011734.1:g.26T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478995.2:n.3193T>C
ENST00000488970.2:n.3832T>C
ENST00000695614.1:c.1676T>C	ENSP00000512053.1:p.Phe559Ser
ENST00000695615.1:c.1676T>C	ENSP00000512054.1:p.Phe559Ser
ENST00000695616.1:c.*1521T>C	ENSP00000512055.1:n.*1521T>C
ENST00000695617.1:c.1673T>C	ENSP00000512056.1:p.Phe558Ser
ENST00000695618.1:c.*1425T>C	ENSP00000512058.1:n.*1425T>C
ENST00000695619.1:c.*1386T>C	ENSP00000512059.1:n.*1386T>C
ENST00000695620.1:c.*1602T>C	ENSP00000512060.1:n.*1602T>C
ENST00000695621.1:c.*101T>C	ENSP00000512061.1:n.*101T>C
ENST00000695622.1:c.1613T>C	ENSP00000512062.1:p.Phe538Ser
ENST00000695623.1:c.1670T>C	ENSP00000512063.1:p.Phe557Ser
ENST00000695624.1:n.981T>C
ENST00000695625.1:c.1676T>C	ENSP00000512064.1:p.Phe559Ser
ENST00000695626.1:c.431T>C	ENSP00000512065.1:n.431T>C
ENST00000695627.1:c.624T>C	ENSP00000512066.1:n.624T>C
ENST00000695628.1:c.235T>C	ENSP00000512067.1:n.235T>C
ENST00000695629.1:c.191-593T>C	ENSP00000512068.1:n.191-593T>C
ENST00000695630.1:c.403T>C
ENST00000695631.1:c.115-696T>C
ENST00000695632.1:n.476T>C
ENST00000703407.1:c.1148T>C	ENSP00000512057.1:p.Phe383Ser
ENST00000308731.8:c.1676T>C MANE Select	ENSP00000308176.8:p.Phe559Ser
ENST00000308731.7:c.1676T>C	ENSP00000308176.7:p.Phe559Ser
ENST00000372880.5:c.1148T>C	ENSP00000361971.1:p.Phe383Ser
ENST00000470069.1:n.41T>C
ENST00000488970.1:n.278T>C
ENST00000618050.4:c.1676T>C	ENSP00000479125.1:p.Phe559Ser
ENST00000621635.4:c.1778T>C	ENSP00000483570.1:p.Phe593Ser
NM_000061.2:c.1676T>C , LRG_128t1:c.1676T>C	NP_000052.1:p.Phe559Ser
NM_001287344.1:c.1778T>C	NP_001274273.1:p.Phe593Ser
NM_001287345.1:c.1148T>C	NP_001274274.1:p.Phe383Ser
NM_000061.3:c.1676T>C MANE Select	NP_000052.1:p.Phe559Ser
NM_001287344.2:c.1778T>C	NP_001274273.1:p.Phe593Ser
NM_001287345.2:c.1148T>C	NP_001274274.1:p.Phe383Ser