Canonical Allele Identifier: CA2448284052
Gene: BTK HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101356163G= , CM000685.2:g.101356163G= GRCh38
NC_000023.10:g.100611151G= , CM000685.1:g.100611151G= GRCh37
NC_000023.9:g.100497807G= NCBI36
NG_009616.1:g.35062C= , LRG_128:g.35062C=

Transcript Alleles

HGVS Amino-acid Change
NM_000061.3:c.1455C= MANE Select NP_000052.1:p.Tyr485=
ENST00000308731.8:c.1455C= MANE Select ENSP00000308176.8:p.Tyr485=
NM_000061.2:c.1455C= , LRG_128t1:c.1455C= NP_000052.1:p.Tyr485=
NM_001287344.1:c.1557C= NP_001274273.1:p.Tyr519=
NM_001287344.2:c.1557C= NP_001274273.1:p.Tyr519=
NM_001287345.1:c.1039-1469C= NP_001274274.1:n.1039-1469C=
NM_001287345.2:c.1039-1469C= NP_001274274.1:n.1039-1469C=
ENST00000308731.7:c.1455C= ENSP00000308176.7:p.Tyr485=
ENST00000372880.5:c.1039-1469C= ENSP00000361971.1:n.1039-1469C=
ENST00000478995.1:n.127C=
ENST00000478995.2:n.1615C=
ENST00000488970.2:n.1613C=
ENST00000618050.4:c.1455C= ENSP00000479125.1:p.Tyr485=
ENST00000621635.4:c.1557C= ENSP00000483570.1:p.Tyr519=
ENST00000695614.1:c.1455C= ENSP00000512053.1:p.Tyr485=
ENST00000695615.1:c.1455C= ENSP00000512054.1:p.Tyr485=
ENST00000695616.1:c.*1300C= ENSP00000512055.1:n.*1300C=
ENST00000695617.1:c.1452C= ENSP00000512056.1:p.Tyr484=
ENST00000695618.1:c.*1204C= ENSP00000512058.1:n.*1204C=
ENST00000695619.1:c.*1165C= ENSP00000512059.1:n.*1165C=
ENST00000695620.1:c.*1381C= ENSP00000512060.1:n.*1381C=
ENST00000695621.1:c.1455C= ENSP00000512061.1:p.Tyr485=
ENST00000695622.1:c.1392C= ENSP00000512062.1:p.Tyr464=
ENST00000695623.1:c.1449C= ENSP00000512063.1:p.Tyr483=
ENST00000695624.1:n.760C=
ENST00000695625.1:c.1455C= ENSP00000512064.1:p.Tyr485=
ENST00000695626.1:c.321+621C= ENSP00000512065.1:n.321+621C=
ENST00000695627.1:c.468C= ENSP00000512066.1:p.Tyr156=
ENST00000695628.1:c.190+1346C= ENSP00000512067.1:n.190+1346C=
ENST00000695629.1:c.190+1346C= ENSP00000512068.1:n.190+1346C=
ENST00000695630.1:c.358+621C=
ENST00000695631.1:c.114+2147C=
ENST00000695632.1:n.366+621C=
ENST00000703407.1:c.1039-1469C= ENSP00000512057.1:n.1039-1469C=