Canonical Allele Identifier: CA517534706

Gene: BTK

Linked Data

• dbSNP Id: rs2147432551
• MyVariant Identifiers: chrX:g.100615570T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101360582T>G , CM000685.2:g.101360582T>G	GRCh38
NC_000023.10:g.100615570T>G , CM000685.1:g.100615570T>G	GRCh37
NC_000023.9:g.100502226T>G	NCBI36
NG_009616.1:g.30643A>C , LRG_128:g.30643A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000464006.2:n.542A>C
ENST00000478995.2:n.922A>C
ENST00000488970.2:n.920A>C
ENST00000695614.1:c.762A>C	ENSP00000512053.1:p.Ala254=
ENST00000695615.1:c.762A>C	ENSP00000512054.1:p.Ala254=
ENST00000695616.1:c.*607A>C	ENSP00000512055.1:n.*607A>C
ENST00000695617.1:c.759A>C	ENSP00000512056.1:p.Ala253=
ENST00000695618.1:c.*511A>C	ENSP00000512058.1:n.*511A>C
ENST00000695619.1:c.*607A>C	ENSP00000512059.1:n.*607A>C
ENST00000695620.1:c.*607A>C	ENSP00000512060.1:n.*607A>C
ENST00000695621.1:c.762A>C	ENSP00000512061.1:p.Ala254=
ENST00000695622.1:c.762A>C	ENSP00000512062.1:p.Ala254=
ENST00000695623.1:c.762A>C	ENSP00000512063.1:p.Ala254=
ENST00000695625.1:c.762A>C	ENSP00000512064.1:p.Ala254=
ENST00000703407.1:c.762A>C	ENSP00000512057.1:p.Ala254=
ENST00000308731.8:c.762A>C MANE Select	ENSP00000308176.8:p.Ala254=
ENST00000308731.7:c.762A>C	ENSP00000308176.7:p.Ala254=
ENST00000372880.5:c.762A>C	ENSP00000361971.1:p.Ala254=
ENST00000618050.4:c.762A>C	ENSP00000479125.1:p.Ala254=
ENST00000621635.4:c.864A>C	ENSP00000483570.1:p.Ala288=
NM_000061.2:c.762A>C , LRG_128t1:c.762A>C	NP_000052.1:p.Ala254=
NM_001287344.1:c.864A>C	NP_001274273.1:p.Ala288=
NM_001287345.1:c.762A>C	NP_001274274.1:p.Ala254=
NM_000061.3:c.762A>C MANE Select	NP_000052.1:p.Ala254=
NM_001287344.2:c.864A>C	NP_001274273.1:p.Ala288=
NM_001287345.2:c.762A>C	NP_001274274.1:p.Ala254=