Canonical Allele Identifier: CA413927702
Community Standard Title: NM_000061.3(BTK):c.1085A>G (p.His362Arg)
Gene: BTK HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101358327T>C , CM000685.2:g.101358327T>C GRCh38
NC_000023.10:g.100613315T>C , CM000685.1:g.100613315T>C GRCh37
NC_000023.9:g.100499971T>C NCBI36
NG_009616.1:g.32898A>G , LRG_128:g.32898A>G

Transcript Alleles

HGVS Amino-acid Change
NM_000061.3:c.1085A>G MANE Select NP_000052.1:p.His362Arg
ENST00000308731.8:c.1085A>G MANE Select ENSP00000308176.8:p.His362Arg
NM_000061.2:c.1085A>G , LRG_128t1:c.1085A>G NP_000052.1:p.His362Arg
NM_001287344.1:c.1187A>G NP_001274273.1:p.His396Arg
NM_001287344.2:c.1187A>G NP_001274273.1:p.His396Arg
NM_001287345.1:c.1038+47A>G NP_001274274.1:n.1038+47A>G
NM_001287345.2:c.1038+47A>G NP_001274274.1:n.1038+47A>G
ENST00000308731.7:c.1085A>G ENSP00000308176.7:p.His362Arg
ENST00000372880.5:c.1038+47A>G ENSP00000361971.1:n.1038+47A>G
ENST00000470329.1:n.35A>G
ENST00000478995.2:n.1245A>G
ENST00000488970.2:n.1243A>G
ENST00000618050.4:c.1085A>G ENSP00000479125.1:p.His362Arg
ENST00000621635.4:c.1187A>G ENSP00000483570.1:p.His396Arg
ENST00000695614.1:c.1085A>G ENSP00000512053.1:p.His362Arg
ENST00000695615.1:c.1085A>G ENSP00000512054.1:p.His362Arg
ENST00000695616.1:c.*930A>G ENSP00000512055.1:n.*930A>G
ENST00000695617.1:c.1082A>G ENSP00000512056.1:p.His361Arg
ENST00000695618.1:c.*834A>G ENSP00000512058.1:n.*834A>G
ENST00000695619.1:c.*795A>G ENSP00000512059.1:n.*795A>G
ENST00000695620.1:c.*930A>G ENSP00000512060.1:n.*930A>G
ENST00000695621.1:c.1085A>G ENSP00000512061.1:p.His362Arg
ENST00000695622.1:c.1022A>G ENSP00000512062.1:p.His341Arg
ENST00000695623.1:c.1079A>G ENSP00000512063.1:p.His360Arg
ENST00000695624.1:n.390A>G
ENST00000695625.1:c.1085A>G ENSP00000512064.1:p.His362Arg
ENST00000695626.1:c.98A>G ENSP00000512065.1:p.His33Arg
ENST00000695627.1:c.98A>G ENSP00000512066.1:p.His33Arg
ENST00000695628.1:c.98A>G ENSP00000512067.1:p.His33Arg
ENST00000695629.1:c.98A>G ENSP00000512068.1:p.His33Arg
ENST00000695630.1:c.94A>G
ENST00000695631.1:c.97A>G
ENST00000695632.1:n.102A>G
ENST00000703407.1:c.1038+47A>G ENSP00000512057.1:n.1038+47A>G