Canonical Allele Identifier: CA413919174

Gene: BTK

Linked Data

• MyVariant Identifiers: chrX:g.100608282T>G (hg19) ; chrX:g.101353294T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101353294T>G , CM000685.2:g.101353294T>G	GRCh38
NC_000023.10:g.100608282T>G , CM000685.1:g.100608282T>G	GRCh37
NC_000023.9:g.100494938T>G	NCBI36
NG_009616.1:g.37931A>C , LRG_128:g.37931A>C
NG_011734.1:g.676A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000478995.2:n.3325A>C
ENST00000488970.2:n.3964A>C
ENST00000695614.1:c.1808A>C	ENSP00000512053.1:p.Asn603Thr
ENST00000695615.1:c.1808A>C	ENSP00000512054.1:p.Asn603Thr
ENST00000695616.1:c.*1653A>C	ENSP00000512055.1:n.*1653A>C
ENST00000695617.1:c.1805A>C	ENSP00000512056.1:p.Asn602Thr
ENST00000695618.1:c.*1557A>C	ENSP00000512058.1:n.*1557A>C
ENST00000695619.1:c.*1518A>C	ENSP00000512059.1:n.*1518A>C
ENST00000695620.1:c.*1734A>C	ENSP00000512060.1:n.*1734A>C
ENST00000695621.1:c.*233A>C	ENSP00000512061.1:n.*233A>C
ENST00000695622.1:c.1745A>C	ENSP00000512062.1:p.Asn582Thr
ENST00000695623.1:c.1802A>C	ENSP00000512063.1:p.Asn601Thr
ENST00000695624.1:n.1113A>C
ENST00000695625.1:c.1808A>C	ENSP00000512064.1:p.Asn603Thr
ENST00000695626.1:c.563A>C	ENSP00000512065.1:n.563A>C
ENST00000695627.1:c.756A>C	ENSP00000512066.1:n.756A>C
ENST00000695628.1:c.367A>C	ENSP00000512067.1:n.367A>C
ENST00000695629.1:c.248A>C	ENSP00000512068.1:p.Asn83Thr
ENST00000695630.1:c.535A>C
ENST00000695631.1:c.115-46A>C
ENST00000703407.1:c.1280A>C	ENSP00000512057.1:p.Asn427Thr
ENST00000308731.8:c.1808A>C MANE Select	ENSP00000308176.8:p.Asn603Thr
ENST00000308731.7:c.1808A>C	ENSP00000308176.7:p.Asn603Thr
ENST00000372880.5:c.1280A>C	ENSP00000361971.1:p.Asn427Thr
ENST00000470069.1:n.173A>C
ENST00000618050.4:c.1807A>C	ENSP00000479125.1:n.1807A>C
ENST00000621635.4:c.1910A>C	ENSP00000483570.1:p.Asn637Thr
NM_000061.2:c.1808A>C , LRG_128t1:c.1808A>C	NP_000052.1:p.Asn603Thr
NM_001287344.1:c.1910A>C	NP_001274273.1:p.Asn637Thr
NM_001287345.1:c.1280A>C	NP_001274274.1:p.Asn427Thr
NM_000061.3:c.1808A>C MANE Select	NP_000052.1:p.Asn603Thr
NM_001287344.2:c.1910A>C	NP_001274273.1:p.Asn637Thr
NM_001287345.2:c.1280A>C	NP_001274274.1:p.Asn427Thr