Canonical Allele Identifier: CA370315074

Gene: BLK

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.11556804C>G , CM000670.2:g.11556804C>G	GRCh38
NC_000008.10:g.11414313C>G , CM000670.1:g.11414313C>G	GRCh37
NC_000008.9:g.11451722C>G	NCBI36
NG_023543.1:g.67793C>G
NG_023543.2:g.67793C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001715.3:c.919C>G MANE Select	NP_001706.2:p.Pro307Ala
ENST00000259089.9:c.919C>G MANE Select	ENSP00000259089.4:p.Pro307Ala
NM_001330465.1:c.706C>G	NP_001317394.1:p.Pro236Ala
NM_001330465.2:c.706C>G	NP_001317394.1:p.Pro236Ala
NM_001715.2:c.919C>G	NP_001706.2:p.Pro307Ala
ENST00000259089.8:c.919C>G	ENSP00000259089.4:p.Pro307Ala
ENST00000529894.1:c.706C>G	ENSP00000433663.1:p.Pro236Ala
ENST00000645242.1:c.706C>G	ENSP00000494690.1:p.Pro236Ala
ENST00000696154.1:c.*221C>G	ENSP00000512445.1:n.*221C>G
ENST00000696154.2:n.1011C>G
XM_011543824.1:c.919C>G	XP_011542126.1:p.Pro307Ala
XM_011543825.1:c.919C>G	XP_011542127.1:p.Pro307Ala
XM_011543825.3:c.919C>G	XP_011542127.1:p.Pro307Ala
XM_011543826.1:c.919C>G	XP_011542128.1:p.Pro307Ala
XM_011543827.1:c.706C>G	XP_011542129.1:p.Pro236Ala