Canonical Allele Identifier: CA4630539

Gene: BLK

Linked Data

• dbSNP Id: rs775381312
• ExAC: 8:11421614 C / G
• gnomAD v2: 8-11421614-C-G
• gnomAD v3: 8-11564105-C-G
• gnomAD v4: 8-11564105-C-G
• MyVariant Identifiers: chr8:g.11421614C>G (hg19) ; chr8:g.11564105C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.11564105C>G , CM000670.2:g.11564105C>G	GRCh38
NC_000008.10:g.11421614C>G , CM000670.1:g.11421614C>G	GRCh37
NC_000008.9:g.11459023C>G	NCBI36
NG_023543.1:g.75094C>G
NG_023543.2:g.75094C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696154.2:n.1623C>G
ENST00000696154.1:c.*833C>G	ENSP00000512445.1:n.*833C>G
ENST00000696155.1:n.399C>G
ENST00000259089.9:c.1515C>G MANE Select	ENSP00000259089.4:p.Pro505=
ENST00000645242.1:c.1302C>G	ENSP00000494690.1:p.Pro434=
ENST00000259089.8:c.1515C>G	ENSP00000259089.4:p.Pro505=
ENST00000526097.1:n.1455C>G
ENST00000529894.1:c.1302C>G	ENSP00000433663.1:p.Pro434=
NM_001715.2:c.1515C>G	NP_001706.2:p.Pro505=
XM_011543824.1:c.1593C>G	XP_011542126.1:p.Pro531=
XM_011543825.1:c.1593C>G	XP_011542127.1:p.Pro531=
XM_011543826.1:c.1593C>G	XP_011542128.1:p.Pro531=
XM_011543827.1:c.1380C>G	XP_011542129.1:p.Pro460=
NM_001330465.1:c.1302C>G	NP_001317394.1:p.Pro434=
XM_011543825.3:c.1593C>G	XP_011542127.1:p.Pro531=
NM_001715.3:c.1515C>G MANE Select	NP_001706.2:p.Pro505=
NM_001330465.2:c.1302C>G	NP_001317394.1:p.Pro434=