Canonical Allele Identifier: CA413919592

Gene: BTK

Linked Data

• MyVariant Identifiers: chrX:g.100608332C>G (hg19) ; chrX:g.101353344C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101353344C>G , CM000685.2:g.101353344C>G	GRCh38
NC_000023.10:g.100608332C>G , CM000685.1:g.100608332C>G	GRCh37
NC_000023.9:g.100494988C>G	NCBI36
NG_009616.1:g.37881G>C , LRG_128:g.37881G>C
NG_011734.1:g.626G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478995.2:n.3275G>C
ENST00000488970.2:n.3914G>C
ENST00000695614.1:c.1758G>C	ENSP00000512053.1:p.Leu586Phe
ENST00000695615.1:c.1758G>C	ENSP00000512054.1:p.Leu586Phe
ENST00000695616.1:c.*1603G>C	ENSP00000512055.1:n.*1603G>C
ENST00000695617.1:c.1755G>C	ENSP00000512056.1:p.Leu585Phe
ENST00000695618.1:c.*1507G>C	ENSP00000512058.1:n.*1507G>C
ENST00000695619.1:c.*1468G>C	ENSP00000512059.1:n.*1468G>C
ENST00000695620.1:c.*1684G>C	ENSP00000512060.1:n.*1684G>C
ENST00000695621.1:c.*183G>C	ENSP00000512061.1:n.*183G>C
ENST00000695622.1:c.1695G>C	ENSP00000512062.1:p.Leu565Phe
ENST00000695623.1:c.1752G>C	ENSP00000512063.1:p.Leu584Phe
ENST00000695624.1:n.1063G>C
ENST00000695625.1:c.1758G>C	ENSP00000512064.1:p.Leu586Phe
ENST00000695626.1:c.513G>C	ENSP00000512065.1:n.513G>C
ENST00000695627.1:c.706G>C	ENSP00000512066.1:n.706G>C
ENST00000695628.1:c.317G>C	ENSP00000512067.1:n.317G>C
ENST00000695629.1:c.198G>C	ENSP00000512068.1:p.Leu66Phe
ENST00000695630.1:c.485G>C
ENST00000695631.1:c.115-96G>C
ENST00000703407.1:c.1230G>C	ENSP00000512057.1:p.Leu410Phe
ENST00000308731.8:c.1758G>C MANE Select	ENSP00000308176.8:p.Leu586Phe
ENST00000308731.7:c.1758G>C	ENSP00000308176.7:p.Leu586Phe
ENST00000372880.5:c.1230G>C	ENSP00000361971.1:p.Leu410Phe
ENST00000470069.1:n.123G>C
ENST00000488970.1:n.360G>C
ENST00000618050.4:c.1757G>C	ENSP00000479125.1:n.1757G>C
ENST00000621635.4:c.1860G>C	ENSP00000483570.1:p.Leu620Phe
NM_000061.2:c.1758G>C , LRG_128t1:c.1758G>C	NP_000052.1:p.Leu586Phe
NM_001287344.1:c.1860G>C	NP_001274273.1:p.Leu620Phe
NM_001287345.1:c.1230G>C	NP_001274274.1:p.Leu410Phe
NM_000061.3:c.1758G>C MANE Select	NP_000052.1:p.Leu586Phe
NM_001287344.2:c.1860G>C	NP_001274273.1:p.Leu620Phe
NM_001287345.2:c.1230G>C	NP_001274274.1:p.Leu410Phe