Canonical Allele Identifier: CA2549657654
Gene: BTK HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101350682G>T , CM000685.2:g.101350682G>T GRCh38
NC_000023.10:g.100605670G>T , CM000685.1:g.100605670G>T GRCh37
NC_000023.9:g.100492326G>T NCBI36
NG_009616.1:g.40543C>A , LRG_128:g.40543C>A
NG_011734.1:g.3288C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000478995.2:n.3426-726C>A
ENST00000488970.2:n.4065-726C>A
ENST00000695614.1:c.1909-726C>A ENSP00000512053.1:n.1909-726C>A
ENST00000695615.1:c.1909-726C>A ENSP00000512054.1:n.1909-726C>A
ENST00000695616.1:c.*1754-726C>A ENSP00000512055.1:n.*1754-726C>A
ENST00000695617.1:c.1906-726C>A ENSP00000512056.1:n.1906-726C>A
ENST00000695618.1:c.*1658-726C>A ENSP00000512058.1:n.*1658-726C>A
ENST00000695619.1:c.*1619-726C>A ENSP00000512059.1:n.*1619-726C>A
ENST00000695620.1:c.*1835-726C>A ENSP00000512060.1:n.*1835-726C>A
ENST00000695621.1:c.*334-726C>A ENSP00000512061.1:n.*334-726C>A
ENST00000695622.1:c.1846-726C>A ENSP00000512062.1:n.1846-726C>A
ENST00000695623.1:c.1903-726C>A ENSP00000512063.1:n.1903-726C>A
ENST00000695624.1:n.1214-726C>A
ENST00000695625.1:c.1876-726C>A ENSP00000512064.1:n.1876-726C>A
ENST00000695626.1:c.664-726C>A ENSP00000512065.1:n.664-726C>A
ENST00000695627.1:c.857-726C>A ENSP00000512066.1:n.857-726C>A
ENST00000695628.1:c.468-726C>A ENSP00000512067.1:n.468-726C>A
ENST00000695629.1:c.349-726C>A ENSP00000512068.1:n.349-726C>A
ENST00000695630.1:c.636-726C>A
ENST00000695631.1:c.170-726C>A
ENST00000703407.1:c.1381-726C>A ENSP00000512057.1:n.1381-726C>A
ENST00000308731.8:c.1909-726C>A MANE Select ENSP00000308176.8:n.1909-726C>A
ENST00000308731.7:c.1909-726C>A ENSP00000308176.7:n.1909-726C>A
ENST00000372880.5:c.1381-726C>A ENSP00000361971.1:n.1381-726C>A
ENST00000618050.4:c.1908-726C>A ENSP00000479125.1:n.1908-726C>A
ENST00000621635.4:c.2011-726C>A ENSP00000483570.1:n.2011-726C>A
NM_000061.2:c.1909-726C>A , LRG_128t1:c.1909-726C>A NP_000052.1:n.1909-726C>A
NM_001287344.1:c.2011-726C>A NP_001274273.1:n.2011-726C>A
NM_001287345.1:c.1381-726C>A NP_001274274.1:n.1381-726C>A
NM_000061.3:c.1909-726C>A MANE Select NP_000052.1:n.1909-726C>A
NM_001287344.2:c.2011-726C>A NP_001274273.1:n.2011-726C>A
NM_001287345.2:c.1381-726C>A NP_001274274.1:n.1381-726C>A