Canonical Allele Identifier: CA370316933

Gene: BLK

Linked Data

• dbSNP Id: rs1448315685
• gnomAD v2: 8-11421543-A-G
• gnomAD v3: 8-11564034-A-G
• gnomAD v4: 8-11564034-A-G
• MyVariant Identifiers: chr8:g.11421543A>G (hg19) ; chr8:g.11564034A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.11564034A>G , CM000670.2:g.11564034A>G	GRCh38
NC_000008.10:g.11421543A>G , CM000670.1:g.11421543A>G	GRCh37
NC_000008.9:g.11458952A>G	NCBI36
NG_023543.1:g.75023A>G
NG_023543.2:g.75023A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696154.2:n.1552A>G
ENST00000696154.1:c.*762A>G	ENSP00000512445.1:n.*762A>G
ENST00000696155.1:n.328A>G
ENST00000259089.9:c.1444A>G MANE Select	ENSP00000259089.4:p.Thr482Ala
ENST00000645242.1:c.1231A>G	ENSP00000494690.1:p.Thr411Ala
ENST00000259089.8:c.1444A>G	ENSP00000259089.4:p.Thr482Ala
ENST00000526097.1:n.1384A>G
ENST00000529894.1:c.1231A>G	ENSP00000433663.1:p.Thr411Ala
NM_001715.2:c.1444A>G	NP_001706.2:p.Thr482Ala
XM_011543824.1:c.1522A>G	XP_011542126.1:p.Thr508Ala
XM_011543825.1:c.1522A>G	XP_011542127.1:p.Thr508Ala
XM_011543826.1:c.1522A>G	XP_011542128.1:p.Thr508Ala
XM_011543827.1:c.1309A>G	XP_011542129.1:p.Thr437Ala
NM_001330465.1:c.1231A>G	NP_001317394.1:p.Thr411Ala
XM_011543825.3:c.1522A>G	XP_011542127.1:p.Thr508Ala
NM_001715.3:c.1444A>G MANE Select	NP_001706.2:p.Thr482Ala
NM_001330465.2:c.1231A>G	NP_001317394.1:p.Thr411Ala