Canonical Allele Identifier: CA413925043

Gene: BTK

Linked Data

• MyVariant Identifiers: chrX:g.100611828C>A (hg19) ; chrX:g.101356840C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101356840C>A , CM000685.2:g.101356840C>A	GRCh38
NC_000023.10:g.100611828C>A , CM000685.1:g.100611828C>A	GRCh37
NC_000023.9:g.100498484C>A	NCBI36
NG_009616.1:g.34385G>T , LRG_128:g.34385G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478995.2:n.1453G>T
ENST00000488970.2:n.1451G>T
ENST00000695614.1:c.1293G>T	ENSP00000512053.1:p.Met431Ile
ENST00000695615.1:c.1293G>T	ENSP00000512054.1:p.Met431Ile
ENST00000695616.1:c.*1138G>T	ENSP00000512055.1:n.*1138G>T
ENST00000695617.1:c.1290G>T	ENSP00000512056.1:p.Met430Ile
ENST00000695618.1:c.*1042G>T	ENSP00000512058.1:n.*1042G>T
ENST00000695619.1:c.*1003G>T	ENSP00000512059.1:n.*1003G>T
ENST00000695620.1:c.*1138G>T	ENSP00000512060.1:n.*1138G>T
ENST00000695621.1:c.1293G>T	ENSP00000512061.1:p.Met431Ile
ENST00000695622.1:c.1230G>T	ENSP00000512062.1:p.Met410Ile
ENST00000695623.1:c.1287G>T	ENSP00000512063.1:p.Met429Ile
ENST00000695624.1:n.598G>T
ENST00000695625.1:c.1293G>T	ENSP00000512064.1:p.Met431Ile
ENST00000695626.1:c.265G>T	ENSP00000512065.1:p.Asp89Tyr
ENST00000695627.1:c.306G>T	ENSP00000512066.1:p.Met102Ile
ENST00000695628.1:c.190+669G>T	ENSP00000512067.1:n.190+669G>T
ENST00000695629.1:c.190+669G>T	ENSP00000512068.1:n.190+669G>T
ENST00000695630.1:c.302G>T
ENST00000695631.1:c.114+1470G>T
ENST00000695632.1:n.310G>T
ENST00000703407.1:c.1038+1534G>T	ENSP00000512057.1:n.1038+1534G>T
ENST00000308731.8:c.1293G>T MANE Select	ENSP00000308176.8:p.Met431Ile
ENST00000308731.7:c.1293G>T	ENSP00000308176.7:p.Met431Ile
ENST00000372880.5:c.1038+1534G>T	ENSP00000361971.1:n.1038+1534G>T
ENST00000470329.1:n.243G>T
ENST00000618050.4:c.1293G>T	ENSP00000479125.1:p.Met431Ile
ENST00000621635.4:c.1395G>T	ENSP00000483570.1:p.Met465Ile
NM_000061.2:c.1293G>T , LRG_128t1:c.1293G>T	NP_000052.1:p.Met431Ile
NM_001287344.1:c.1395G>T	NP_001274273.1:p.Met465Ile
NM_001287345.1:c.1038+1534G>T	NP_001274274.1:n.1038+1534G>T
NM_000061.3:c.1293G>T MANE Select	NP_000052.1:p.Met431Ile
NM_001287344.2:c.1395G>T	NP_001274273.1:p.Met465Ile
NM_001287345.2:c.1038+1534G>T	NP_001274274.1:n.1038+1534G>T