Canonical Allele Identifier: CA370317078

Gene: BLK

Linked Data

• MyVariant Identifiers: chr8:g.11421589C>G (hg19) ; chr8:g.11564080C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.11564080C>G , CM000670.2:g.11564080C>G	GRCh38
NC_000008.10:g.11421589C>G , CM000670.1:g.11421589C>G	GRCh37
NC_000008.9:g.11458998C>G	NCBI36
NG_023543.1:g.75069C>G
NG_023543.2:g.75069C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696154.2:n.1598C>G
ENST00000696154.1:c.*808C>G	ENSP00000512445.1:n.*808C>G
ENST00000696155.1:n.374C>G
ENST00000259089.9:c.1490C>G MANE Select	ENSP00000259089.4:p.Thr497Ser
ENST00000645242.1:c.1277C>G	ENSP00000494690.1:p.Thr426Ser
ENST00000259089.8:c.1490C>G	ENSP00000259089.4:p.Thr497Ser
ENST00000526097.1:n.1430C>G
ENST00000529894.1:c.1277C>G	ENSP00000433663.1:p.Thr426Ser
NM_001715.2:c.1490C>G	NP_001706.2:p.Thr497Ser
XM_011543824.1:c.1568C>G	XP_011542126.1:p.Thr523Ser
XM_011543825.1:c.1568C>G	XP_011542127.1:p.Thr523Ser
XM_011543826.1:c.1568C>G	XP_011542128.1:p.Thr523Ser
XM_011543827.1:c.1355C>G	XP_011542129.1:p.Thr452Ser
NM_001330465.1:c.1277C>G	NP_001317394.1:p.Thr426Ser
XM_011543825.3:c.1568C>G	XP_011542127.1:p.Thr523Ser
NM_001715.3:c.1490C>G MANE Select	NP_001706.2:p.Thr497Ser
NM_001330465.2:c.1277C>G	NP_001317394.1:p.Thr426Ser