Canonical Allele Identifier: CA413925094

Gene: BTK

Linked Data

• gnomAD v4: X-101356854-C-T
• COSMIC: COSM2734299
• MyVariant Identifiers: chrX:g.100611842C>T (hg19) ; chrX:g.101356854C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101356854C>T , CM000685.2:g.101356854C>T	GRCh38
NC_000023.10:g.100611842C>T , CM000685.1:g.100611842C>T	GRCh37
NC_000023.9:g.100498498C>T	NCBI36
NG_009616.1:g.34371G>A , LRG_128:g.34371G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000478995.2:n.1439G>A
ENST00000488970.2:n.1437G>A
ENST00000695614.1:c.1279G>A	ENSP00000512053.1:p.Val427Met
ENST00000695615.1:c.1279G>A	ENSP00000512054.1:p.Val427Met
ENST00000695616.1:c.*1124G>A	ENSP00000512055.1:n.*1124G>A
ENST00000695617.1:c.1276G>A	ENSP00000512056.1:p.Val426Met
ENST00000695618.1:c.*1028G>A	ENSP00000512058.1:n.*1028G>A
ENST00000695619.1:c.*989G>A	ENSP00000512059.1:n.*989G>A
ENST00000695620.1:c.*1124G>A	ENSP00000512060.1:n.*1124G>A
ENST00000695621.1:c.1279G>A	ENSP00000512061.1:p.Val427Met
ENST00000695622.1:c.1216G>A	ENSP00000512062.1:p.Val406Met
ENST00000695623.1:c.1273G>A	ENSP00000512063.1:p.Val425Met
ENST00000695624.1:n.584G>A
ENST00000695625.1:c.1279G>A	ENSP00000512064.1:p.Val427Met
ENST00000695626.1:c.251G>A	ENSP00000512065.1:p.Arg84His
ENST00000695627.1:c.292G>A	ENSP00000512066.1:p.Val98Met
ENST00000695628.1:c.190+655G>A	ENSP00000512067.1:n.190+655G>A
ENST00000695629.1:c.190+655G>A	ENSP00000512068.1:n.190+655G>A
ENST00000695630.1:c.288G>A
ENST00000695631.1:c.114+1456G>A
ENST00000695632.1:n.296G>A
ENST00000703407.1:c.1038+1520G>A	ENSP00000512057.1:n.1038+1520G>A
ENST00000308731.8:c.1279G>A MANE Select	ENSP00000308176.8:p.Val427Met
ENST00000308731.7:c.1279G>A	ENSP00000308176.7:p.Val427Met
ENST00000372880.5:c.1038+1520G>A	ENSP00000361971.1:n.1038+1520G>A
ENST00000470329.1:n.229G>A
ENST00000618050.4:c.1279G>A	ENSP00000479125.1:p.Val427Met
ENST00000621635.4:c.1381G>A	ENSP00000483570.1:p.Val461Met
NM_000061.2:c.1279G>A , LRG_128t1:c.1279G>A	NP_000052.1:p.Val427Met
NM_001287344.1:c.1381G>A	NP_001274273.1:p.Val461Met
NM_001287345.1:c.1038+1520G>A	NP_001274274.1:n.1038+1520G>A
NM_000061.3:c.1279G>A MANE Select	NP_000052.1:p.Val427Met
NM_001287344.2:c.1381G>A	NP_001274273.1:p.Val461Met
NM_001287345.2:c.1038+1520G>A	NP_001274274.1:n.1038+1520G>A