Canonical Allele Identifier: CA658795212

Gene: BTK

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101386057C>T , CM000685.2:g.101386057C>T	GRCh38
NC_000023.10:g.100641045C>T , CM000685.1:g.100641045C>T	GRCh37
NC_000023.9:g.100527701C>T	NCBI36
NG_009616.1:g.5168G>A , LRG_128:g.5168G>A
NG_012523.1:g.98C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000061.3:c.-31+5G>A MANE Select	NP_000052.1:n.-31+5G>A
ENST00000308731.8:c.-31+5G>A MANE Select	ENSP00000308176.8:n.-31+5G>A
NM_000061.2:c.-31+5G>A , LRG_128t1:c.-31+5G>A	NP_000052.1:n.-31+5G>A
NM_001287344.1:c.72+4421G>A	NP_001274273.1:n.72+4421G>A
NM_001287344.2:c.72+4421G>A	NP_001274273.1:n.72+4421G>A
NM_001287345.1:c.-196+5G>A	NP_001274274.1:n.-196+5G>A
NM_001287345.2:c.-196+5G>A	NP_001274274.1:n.-196+5G>A
ENST00000308731.7:c.-31+5G>A	ENSP00000308176.7:n.-31+5G>A
ENST00000372880.5:c.-196+5G>A	ENSP00000361971.1:n.-196+5G>A
ENST00000464567.1:n.87+5G>A
ENST00000478995.2:n.130+5G>A
ENST00000488970.2:n.130+5G>A
ENST00000621635.4:c.72+4421G>A	ENSP00000483570.1:n.72+4421G>A
ENST00000695614.1:c.-13+5G>A	ENSP00000512053.1:n.-13+5G>A
ENST00000695615.1:c.-96+5G>A	ENSP00000512054.1:n.-96+5G>A
ENST00000695616.1:c.-31+5G>A	ENSP00000512055.1:n.-31+5G>A
ENST00000695617.1:c.-31+5G>A	ENSP00000512056.1:n.-31+5G>A
ENST00000695618.1:c.-31+5G>A	ENSP00000512058.1:n.-31+5G>A
ENST00000695619.1:c.-31+5G>A	ENSP00000512059.1:n.-31+5G>A
ENST00000695620.1:c.-31+5G>A	ENSP00000512060.1:n.-31+5G>A
ENST00000695621.1:c.-31+5G>A	ENSP00000512061.1:n.-31+5G>A
ENST00000695622.1:c.-31+5G>A	ENSP00000512062.1:n.-31+5G>A
ENST00000695623.1:c.-31+5G>A	ENSP00000512063.1:n.-31+5G>A
ENST00000695625.1:c.-31+5G>A	ENSP00000512064.1:n.-31+5G>A
ENST00000695633.1:n.283+4421G>A
ENST00000695643.1:c.-208+5G>A	ENSP00000512078.1:n.-208+5G>A
ENST00000703407.1:c.-196+5G>A	ENSP00000512057.1:n.-196+5G>A