Canonical Allele Identifier: CA413920086

Gene: BTK

Linked Data

• MyVariant Identifiers: chrX:g.100608876A>G (hg19) ; chrX:g.101353888A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101353888A>G , CM000685.2:g.101353888A>G	GRCh38
NC_000023.10:g.100608876A>G , CM000685.1:g.100608876A>G	GRCh37
NC_000023.9:g.100495532A>G	NCBI36
NG_009616.1:g.37337T>C , LRG_128:g.37337T>C
NG_011734.1:g.82T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478995.2:n.3249T>C
ENST00000488970.2:n.3888T>C
ENST00000695614.1:c.1732T>C	ENSP00000512053.1:p.Ser578Pro
ENST00000695615.1:c.1732T>C	ENSP00000512054.1:p.Ser578Pro
ENST00000695616.1:c.*1577T>C	ENSP00000512055.1:n.*1577T>C
ENST00000695617.1:c.1729T>C	ENSP00000512056.1:p.Ser577Pro
ENST00000695618.1:c.*1481T>C	ENSP00000512058.1:n.*1481T>C
ENST00000695619.1:c.*1442T>C	ENSP00000512059.1:n.*1442T>C
ENST00000695620.1:c.*1658T>C	ENSP00000512060.1:n.*1658T>C
ENST00000695621.1:c.*157T>C	ENSP00000512061.1:n.*157T>C
ENST00000695622.1:c.1669T>C	ENSP00000512062.1:p.Ser557Pro
ENST00000695623.1:c.1726T>C	ENSP00000512063.1:p.Ser576Pro
ENST00000695624.1:n.1037T>C
ENST00000695625.1:c.1732T>C	ENSP00000512064.1:p.Ser578Pro
ENST00000695626.1:c.487T>C	ENSP00000512065.1:n.487T>C
ENST00000695627.1:c.680T>C	ENSP00000512066.1:n.680T>C
ENST00000695628.1:c.291T>C	ENSP00000512067.1:n.291T>C
ENST00000695629.1:c.191-537T>C	ENSP00000512068.1:n.191-537T>C
ENST00000695630.1:c.459T>C
ENST00000695631.1:c.115-640T>C
ENST00000703407.1:c.1204T>C	ENSP00000512057.1:p.Ser402Pro
ENST00000308731.8:c.1732T>C MANE Select	ENSP00000308176.8:p.Ser578Pro
ENST00000308731.7:c.1732T>C	ENSP00000308176.7:p.Ser578Pro
ENST00000372880.5:c.1204T>C	ENSP00000361971.1:p.Ser402Pro
ENST00000470069.1:n.97T>C
ENST00000488970.1:n.334T>C
ENST00000618050.4:c.1731T>C	ENSP00000479125.1:n.1731T>C
ENST00000621635.4:c.1834T>C	ENSP00000483570.1:p.Ser612Pro
NM_000061.2:c.1732T>C , LRG_128t1:c.1732T>C	NP_000052.1:p.Ser578Pro
NM_001287344.1:c.1834T>C	NP_001274273.1:p.Ser612Pro
NM_001287345.1:c.1204T>C	NP_001274274.1:p.Ser402Pro
NM_000061.3:c.1732T>C MANE Select	NP_000052.1:p.Ser578Pro
NM_001287344.2:c.1834T>C	NP_001274273.1:p.Ser612Pro
NM_001287345.2:c.1204T>C	NP_001274274.1:p.Ser402Pro