Canonical Allele Identifier: CA413920459
Community Standard Title: NM_000061.3(BTK):c.1694C>T (p.Pro565Leu)
Gene: BTK HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101353926G>A , CM000685.2:g.101353926G>A GRCh38
NC_000023.10:g.100608914G>A , CM000685.1:g.100608914G>A GRCh37
NC_000023.9:g.100495570G>A NCBI36
NG_009616.1:g.37299C>T , LRG_128:g.37299C>T
NG_011734.1:g.44C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000061.3:c.1694C>T MANE Select NP_000052.1:p.Pro565Leu
ENST00000308731.8:c.1694C>T MANE Select ENSP00000308176.8:p.Pro565Leu
NM_000061.2:c.1694C>T , LRG_128t1:c.1694C>T NP_000052.1:p.Pro565Leu
NM_001287344.1:c.1796C>T NP_001274273.1:p.Pro599Leu
NM_001287344.2:c.1796C>T NP_001274273.1:p.Pro599Leu
NM_001287345.1:c.1166C>T NP_001274274.1:p.Pro389Leu
NM_001287345.2:c.1166C>T NP_001274274.1:p.Pro389Leu
ENST00000308731.7:c.1694C>T ENSP00000308176.7:p.Pro565Leu
ENST00000372880.5:c.1166C>T ENSP00000361971.1:p.Pro389Leu
ENST00000470069.1:n.59C>T
ENST00000478995.2:n.3211C>T
ENST00000488970.1:n.296C>T
ENST00000488970.2:n.3850C>T
ENST00000618050.4:c.1694C>T ENSP00000479125.1:p.Pro565Leu
ENST00000621635.4:c.1796C>T ENSP00000483570.1:p.Pro599Leu
ENST00000695614.1:c.1694C>T ENSP00000512053.1:p.Pro565Leu
ENST00000695615.1:c.1694C>T ENSP00000512054.1:p.Pro565Leu
ENST00000695616.1:c.*1539C>T ENSP00000512055.1:n.*1539C>T
ENST00000695617.1:c.1691C>T ENSP00000512056.1:p.Pro564Leu
ENST00000695618.1:c.*1443C>T ENSP00000512058.1:n.*1443C>T
ENST00000695619.1:c.*1404C>T ENSP00000512059.1:n.*1404C>T
ENST00000695620.1:c.*1620C>T ENSP00000512060.1:n.*1620C>T
ENST00000695621.1:c.*119C>T ENSP00000512061.1:n.*119C>T
ENST00000695622.1:c.1631C>T ENSP00000512062.1:p.Pro544Leu
ENST00000695623.1:c.1688C>T ENSP00000512063.1:p.Pro563Leu
ENST00000695624.1:n.999C>T
ENST00000695625.1:c.1694C>T ENSP00000512064.1:p.Pro565Leu
ENST00000695626.1:c.449C>T ENSP00000512065.1:n.449C>T
ENST00000695627.1:c.642C>T ENSP00000512066.1:n.642C>T
ENST00000695628.1:c.253C>T ENSP00000512067.1:n.253C>T
ENST00000695629.1:c.191-575C>T ENSP00000512068.1:n.191-575C>T
ENST00000695630.1:c.421C>T
ENST00000695631.1:c.115-678C>T
ENST00000695632.1:n.494C>T
ENST00000703407.1:c.1166C>T ENSP00000512057.1:p.Pro389Leu