Canonical Allele Identifier: CA413918472

Gene: BTK

Linked Data

• MyVariant Identifiers: chrX:g.100608200C>G (hg19) ; chrX:g.101353212C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101353212C>G , CM000685.2:g.101353212C>G	GRCh38
NC_000023.10:g.100608200C>G , CM000685.1:g.100608200C>G	GRCh37
NC_000023.9:g.100494856C>G	NCBI36
NG_009616.1:g.38013G>C , LRG_128:g.38013G>C
NG_011734.1:g.758G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478995.2:n.3407G>C
ENST00000488970.2:n.4046G>C
ENST00000695614.1:c.1890G>C	ENSP00000512053.1:p.Met630Ile
ENST00000695615.1:c.1890G>C	ENSP00000512054.1:p.Met630Ile
ENST00000695616.1:c.*1735G>C	ENSP00000512055.1:n.*1735G>C
ENST00000695617.1:c.1887G>C	ENSP00000512056.1:p.Met629Ile
ENST00000695618.1:c.*1639G>C	ENSP00000512058.1:n.*1639G>C
ENST00000695619.1:c.*1600G>C	ENSP00000512059.1:n.*1600G>C
ENST00000695620.1:c.*1816G>C	ENSP00000512060.1:n.*1816G>C
ENST00000695621.1:c.*315G>C	ENSP00000512061.1:n.*315G>C
ENST00000695622.1:c.1827G>C	ENSP00000512062.1:p.Met609Ile
ENST00000695623.1:c.1884G>C	ENSP00000512063.1:p.Met628Ile
ENST00000695624.1:n.1195G>C
ENST00000695625.1:c.1875+15G>C	ENSP00000512064.1:n.1875+15G>C
ENST00000695626.1:c.645G>C	ENSP00000512065.1:n.645G>C
ENST00000695627.1:c.838G>C	ENSP00000512066.1:n.838G>C
ENST00000695628.1:c.449G>C	ENSP00000512067.1:n.449G>C
ENST00000695629.1:c.330G>C	ENSP00000512068.1:p.Met110Ile
ENST00000695630.1:c.617G>C
ENST00000695631.1:c.151G>C
ENST00000703407.1:c.1362G>C	ENSP00000512057.1:p.Met454Ile
ENST00000308731.8:c.1890G>C MANE Select	ENSP00000308176.8:p.Met630Ile
ENST00000308731.7:c.1890G>C	ENSP00000308176.7:p.Met630Ile
ENST00000372880.5:c.1362G>C	ENSP00000361971.1:p.Met454Ile
ENST00000470069.1:n.255G>C
ENST00000618050.4:c.1889G>C	ENSP00000479125.1:n.1889G>C
ENST00000621635.4:c.1992G>C	ENSP00000483570.1:p.Met664Ile
NM_000061.2:c.1890G>C , LRG_128t1:c.1890G>C	NP_000052.1:p.Met630Ile
NM_001287344.1:c.1992G>C	NP_001274273.1:p.Met664Ile
NM_001287345.1:c.1362G>C	NP_001274274.1:p.Met454Ile
NM_000061.3:c.1890G>C MANE Select	NP_000052.1:p.Met630Ile
NM_001287344.2:c.1992G>C	NP_001274273.1:p.Met664Ile
NM_001287345.2:c.1362G>C	NP_001274274.1:p.Met454Ile