Canonical Allele Identifier: CA16621155
Gene: BTK HGNC NCBI

Linked Data

ClinVar Variation Id: 421091
ClinVar RCV Id: RCV000484290
dbSNP Id: rs1064794904

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101353214T>G , CM000685.2:g.101353214T>G GRCh38
NC_000023.10:g.100608202T>G , CM000685.1:g.100608202T>G GRCh37
NC_000023.9:g.100494858T>G NCBI36
NG_009616.1:g.38011A>C , LRG_128:g.38011A>C
NG_011734.1:g.756A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000478995.2:n.3405A>C
ENST00000488970.2:n.4044A>C
ENST00000695614.1:c.1888A>C ENSP00000512053.1:p.Met630Leu
ENST00000695615.1:c.1888A>C ENSP00000512054.1:p.Met630Leu
ENST00000695616.1:c.*1733A>C ENSP00000512055.1:n.*1733A>C
ENST00000695617.1:c.1885A>C ENSP00000512056.1:p.Met629Leu
ENST00000695618.1:c.*1637A>C ENSP00000512058.1:n.*1637A>C
ENST00000695619.1:c.*1598A>C ENSP00000512059.1:n.*1598A>C
ENST00000695620.1:c.*1814A>C ENSP00000512060.1:n.*1814A>C
ENST00000695621.1:c.*313A>C ENSP00000512061.1:n.*313A>C
ENST00000695622.1:c.1825A>C ENSP00000512062.1:p.Met609Leu
ENST00000695623.1:c.1882A>C ENSP00000512063.1:p.Met628Leu
ENST00000695624.1:n.1193A>C
ENST00000695625.1:c.1875+13A>C ENSP00000512064.1:n.1875+13A>C
ENST00000695626.1:c.643A>C ENSP00000512065.1:n.643A>C
ENST00000695627.1:c.836A>C ENSP00000512066.1:n.836A>C
ENST00000695628.1:c.447A>C ENSP00000512067.1:n.447A>C
ENST00000695629.1:c.328A>C ENSP00000512068.1:p.Met110Leu
ENST00000695630.1:c.615A>C
ENST00000695631.1:c.149A>C
ENST00000703407.1:c.1360A>C ENSP00000512057.1:p.Met454Leu
ENST00000308731.8:c.1888A>C MANE Select ENSP00000308176.8:p.Met630Leu
ENST00000308731.7:c.1888A>C ENSP00000308176.7:p.Met630Leu
ENST00000372880.5:c.1360A>C ENSP00000361971.1:p.Met454Leu
ENST00000470069.1:n.253A>C
ENST00000618050.4:c.1887A>C ENSP00000479125.1:n.1887A>C
ENST00000621635.4:c.1990A>C ENSP00000483570.1:p.Met664Leu
NM_000061.2:c.1888A>C , LRG_128t1:c.1888A>C NP_000052.1:p.Met630Leu
NM_001287344.1:c.1990A>C NP_001274273.1:p.Met664Leu
NM_001287345.1:c.1360A>C NP_001274274.1:p.Met454Leu
NM_000061.3:c.1888A>C MANE Select NP_000052.1:p.Met630Leu
NM_001287344.2:c.1990A>C NP_001274273.1:p.Met664Leu
NM_001287345.2:c.1360A>C NP_001274274.1:p.Met454Leu