Canonical Allele Identifier: CA413930670

Gene: BTK

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101360087C>G , CM000685.2:g.101360087C>G	GRCh38
NC_000023.10:g.100615075C>G , CM000685.1:g.100615075C>G	GRCh37
NC_000023.9:g.100501731C>G	NCBI36
NG_009616.1:g.31138G>C , LRG_128:g.31138G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000061.3:c.839+1G>C MANE Select	NP_000052.1:n.839+1G>C
ENST00000308731.8:c.839+1G>C MANE Select	ENSP00000308176.8:n.839+1G>C
NM_000061.2:c.839+1G>C , LRG_128t1:c.839+1G>C	NP_000052.1:n.839+1G>C
NM_001287344.1:c.941+1G>C	NP_001274273.1:n.941+1G>C
NM_001287344.2:c.941+1G>C	NP_001274273.1:n.941+1G>C
NM_001287345.1:c.839+1G>C	NP_001274274.1:n.839+1G>C
NM_001287345.2:c.839+1G>C	NP_001274274.1:n.839+1G>C
ENST00000308731.7:c.839+1G>C	ENSP00000308176.7:n.839+1G>C
ENST00000372880.5:c.839+1G>C	ENSP00000361971.1:n.839+1G>C
ENST00000464006.2:n.619+1G>C
ENST00000478995.2:n.999+1G>C
ENST00000488970.2:n.997+1G>C
ENST00000618050.4:c.839+1G>C	ENSP00000479125.1:n.839+1G>C
ENST00000621635.4:c.941+1G>C	ENSP00000483570.1:n.941+1G>C
ENST00000695614.1:c.839+1G>C	ENSP00000512053.1:n.839+1G>C
ENST00000695615.1:c.839+1G>C	ENSP00000512054.1:n.839+1G>C
ENST00000695616.1:c.*684+1G>C	ENSP00000512055.1:n.*684+1G>C
ENST00000695617.1:c.836+1G>C	ENSP00000512056.1:n.836+1G>C
ENST00000695618.1:c.*588+1G>C	ENSP00000512058.1:n.*588+1G>C
ENST00000695619.1:c.*684+1G>C	ENSP00000512059.1:n.*684+1G>C
ENST00000695620.1:c.*684+1G>C	ENSP00000512060.1:n.*684+1G>C
ENST00000695621.1:c.839+1G>C	ENSP00000512061.1:n.839+1G>C
ENST00000695622.1:c.776+481G>C	ENSP00000512062.1:n.776+481G>C
ENST00000695623.1:c.833+7G>C	ENSP00000512063.1:n.833+7G>C
ENST00000695624.1:n.144+1G>C
ENST00000695625.1:c.839+1G>C	ENSP00000512064.1:n.839+1G>C
ENST00000703407.1:c.839+1G>C	ENSP00000512057.1:n.839+1G>C