Canonical Allele Identifier: CA517533739
Gene: BTK HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.100611837G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101356849G>C , CM000685.2:g.101356849G>C GRCh38
NC_000023.10:g.100611837G>C , CM000685.1:g.100611837G>C GRCh37
NC_000023.9:g.100498493G>C NCBI36
NG_009616.1:g.34376C>G , LRG_128:g.34376C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000478995.2:n.1444C>G
ENST00000488970.2:n.1442C>G
ENST00000695614.1:c.1284C>G ENSP00000512053.1:p.Ala428=
ENST00000695615.1:c.1284C>G ENSP00000512054.1:p.Ala428=
ENST00000695616.1:c.*1129C>G ENSP00000512055.1:n.*1129C>G
ENST00000695617.1:c.1281C>G ENSP00000512056.1:p.Ala427=
ENST00000695618.1:c.*1033C>G ENSP00000512058.1:n.*1033C>G
ENST00000695619.1:c.*994C>G ENSP00000512059.1:n.*994C>G
ENST00000695620.1:c.*1129C>G ENSP00000512060.1:n.*1129C>G
ENST00000695621.1:c.1284C>G ENSP00000512061.1:p.Ala428=
ENST00000695622.1:c.1221C>G ENSP00000512062.1:p.Ala407=
ENST00000695623.1:c.1278C>G ENSP00000512063.1:p.Ala426=
ENST00000695624.1:n.589C>G
ENST00000695625.1:c.1284C>G ENSP00000512064.1:p.Ala428=
ENST00000695626.1:c.256C>G ENSP00000512065.1:p.His86Asp
ENST00000695627.1:c.297C>G ENSP00000512066.1:p.Ala99=
ENST00000695628.1:c.190+660C>G ENSP00000512067.1:n.190+660C>G
ENST00000695629.1:c.190+660C>G ENSP00000512068.1:n.190+660C>G
ENST00000695630.1:c.293C>G
ENST00000695631.1:c.114+1461C>G
ENST00000695632.1:n.301C>G
ENST00000703407.1:c.1038+1525C>G ENSP00000512057.1:n.1038+1525C>G
ENST00000308731.8:c.1284C>G MANE Select ENSP00000308176.8:p.Ala428=
ENST00000308731.7:c.1284C>G ENSP00000308176.7:p.Ala428=
ENST00000372880.5:c.1038+1525C>G ENSP00000361971.1:n.1038+1525C>G
ENST00000470329.1:n.234C>G
ENST00000618050.4:c.1284C>G ENSP00000479125.1:p.Ala428=
ENST00000621635.4:c.1386C>G ENSP00000483570.1:p.Ala462=
NM_000061.2:c.1284C>G , LRG_128t1:c.1284C>G NP_000052.1:p.Ala428=
NM_001287344.1:c.1386C>G NP_001274273.1:p.Ala462=
NM_001287345.1:c.1038+1525C>G NP_001274274.1:n.1038+1525C>G
NM_000061.3:c.1284C>G MANE Select NP_000052.1:p.Ala428=
NM_001287344.2:c.1386C>G NP_001274273.1:p.Ala462=
NM_001287345.2:c.1038+1525C>G NP_001274274.1:n.1038+1525C>G