Canonical Allele Identifier: CA413920454
Community Standard Title: NM_000061.3(BTK):c.1696C>T (p.Pro566Ser)
Gene: BTK HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101353924G>A , CM000685.2:g.101353924G>A GRCh38
NC_000023.10:g.100608912G>A , CM000685.1:g.100608912G>A GRCh37
NC_000023.9:g.100495568G>A NCBI36
NG_009616.1:g.37301C>T , LRG_128:g.37301C>T
NG_011734.1:g.46C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000061.3:c.1696C>T MANE Select NP_000052.1:p.Pro566Ser
ENST00000308731.8:c.1696C>T MANE Select ENSP00000308176.8:p.Pro566Ser
NM_000061.2:c.1696C>T , LRG_128t1:c.1696C>T NP_000052.1:p.Pro566Ser
NM_001287344.1:c.1798C>T NP_001274273.1:p.Pro600Ser
NM_001287344.2:c.1798C>T NP_001274273.1:p.Pro600Ser
NM_001287345.1:c.1168C>T NP_001274274.1:p.Pro390Ser
NM_001287345.2:c.1168C>T NP_001274274.1:p.Pro390Ser
ENST00000308731.7:c.1696C>T ENSP00000308176.7:p.Pro566Ser
ENST00000372880.5:c.1168C>T ENSP00000361971.1:p.Pro390Ser
ENST00000470069.1:n.61C>T
ENST00000478995.2:n.3213C>T
ENST00000488970.1:n.298C>T
ENST00000488970.2:n.3852C>T
ENST00000618050.4:c.1696C>T ENSP00000479125.1:p.Pro566Ser
ENST00000621635.4:c.1798C>T ENSP00000483570.1:p.Pro600Ser
ENST00000695614.1:c.1696C>T ENSP00000512053.1:p.Pro566Ser
ENST00000695615.1:c.1696C>T ENSP00000512054.1:p.Pro566Ser
ENST00000695616.1:c.*1541C>T ENSP00000512055.1:n.*1541C>T
ENST00000695617.1:c.1693C>T ENSP00000512056.1:p.Pro565Ser
ENST00000695618.1:c.*1445C>T ENSP00000512058.1:n.*1445C>T
ENST00000695619.1:c.*1406C>T ENSP00000512059.1:n.*1406C>T
ENST00000695620.1:c.*1622C>T ENSP00000512060.1:n.*1622C>T
ENST00000695621.1:c.*121C>T ENSP00000512061.1:n.*121C>T
ENST00000695622.1:c.1633C>T ENSP00000512062.1:p.Pro545Ser
ENST00000695623.1:c.1690C>T ENSP00000512063.1:p.Pro564Ser
ENST00000695624.1:n.1001C>T
ENST00000695625.1:c.1696C>T ENSP00000512064.1:p.Pro566Ser
ENST00000695626.1:c.451C>T ENSP00000512065.1:n.451C>T
ENST00000695627.1:c.644C>T ENSP00000512066.1:n.644C>T
ENST00000695628.1:c.255C>T ENSP00000512067.1:n.255C>T
ENST00000695629.1:c.191-573C>T ENSP00000512068.1:n.191-573C>T
ENST00000695630.1:c.423C>T
ENST00000695631.1:c.115-676C>T
ENST00000695632.1:n.496C>T
ENST00000703407.1:c.1168C>T ENSP00000512057.1:p.Pro390Ser