Canonical Allele Identifier: CA2579663754

Gene: BTK

Linked Data

• gnomAD v4: X-101357631-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101357631G>T , CM000685.2:g.101357631G>T	GRCh38
NC_000023.10:g.100612619G>T , CM000685.1:g.100612619G>T	GRCh37
NC_000023.9:g.100499275G>T	NCBI36
NG_009616.1:g.33594C>A , LRG_128:g.33594C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000478995.2:n.1263-48C>A
ENST00000488970.2:n.1261-48C>A
ENST00000695614.1:c.1103-48C>A	ENSP00000512053.1:n.1103-48C>A
ENST00000695615.1:c.1103-48C>A	ENSP00000512054.1:n.1103-48C>A
ENST00000695616.1:c.*948-48C>A	ENSP00000512055.1:n.*948-48C>A
ENST00000695617.1:c.1100-48C>A	ENSP00000512056.1:n.1100-48C>A
ENST00000695618.1:c.*852-48C>A	ENSP00000512058.1:n.*852-48C>A
ENST00000695619.1:c.*813-48C>A	ENSP00000512059.1:n.*813-48C>A
ENST00000695620.1:c.*948-48C>A	ENSP00000512060.1:n.*948-48C>A
ENST00000695621.1:c.1103-48C>A	ENSP00000512061.1:n.1103-48C>A
ENST00000695622.1:c.1040-48C>A	ENSP00000512062.1:n.1040-48C>A
ENST00000695623.1:c.1097-48C>A	ENSP00000512063.1:n.1097-48C>A
ENST00000695624.1:n.408-48C>A
ENST00000695625.1:c.1103-48C>A	ENSP00000512064.1:n.1103-48C>A
ENST00000695626.1:c.116-48C>A	ENSP00000512065.1:n.116-48C>A
ENST00000695627.1:c.116-48C>A	ENSP00000512066.1:n.116-48C>A
ENST00000695628.1:c.116-48C>A	ENSP00000512067.1:n.116-48C>A
ENST00000695629.1:c.116-48C>A	ENSP00000512068.1:n.116-48C>A
ENST00000695630.1:c.112-48C>A
ENST00000695631.1:c.114+679C>A
ENST00000695632.1:n.120-48C>A
ENST00000703407.1:c.1038+743C>A	ENSP00000512057.1:n.1038+743C>A
ENST00000308731.8:c.1103-48C>A MANE Select	ENSP00000308176.8:n.1103-48C>A
ENST00000308731.7:c.1103-48C>A	ENSP00000308176.7:n.1103-48C>A
ENST00000372880.5:c.1038+743C>A	ENSP00000361971.1:n.1038+743C>A
ENST00000470329.1:n.53-48C>A
ENST00000618050.4:c.1103-48C>A	ENSP00000479125.1:n.1103-48C>A
ENST00000621635.4:c.1205-48C>A	ENSP00000483570.1:n.1205-48C>A
NM_000061.2:c.1103-48C>A , LRG_128t1:c.1103-48C>A	NP_000052.1:n.1103-48C>A
NM_001287344.1:c.1205-48C>A	NP_001274273.1:n.1205-48C>A
NM_001287345.1:c.1038+743C>A	NP_001274274.1:n.1038+743C>A
NM_000061.3:c.1103-48C>A MANE Select	NP_000052.1:n.1103-48C>A
NM_001287344.2:c.1205-48C>A	NP_001274273.1:n.1205-48C>A
NM_001287345.2:c.1038+743C>A	NP_001274274.1:n.1038+743C>A