Canonical Allele Identifier: CA370317045

Gene: BLK

Linked Data

• MyVariant Identifiers: chr8:g.11421579T>A (hg19) ; chr8:g.11564070T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.11564070T>A , CM000670.2:g.11564070T>A	GRCh38
NC_000008.10:g.11421579T>A , CM000670.1:g.11421579T>A	GRCh37
NC_000008.9:g.11458988T>A	NCBI36
NG_023543.1:g.75059T>A
NG_023543.2:g.75059T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696154.2:n.1588T>A
ENST00000696154.1:c.*798T>A	ENSP00000512445.1:n.*798T>A
ENST00000696155.1:n.364T>A
ENST00000259089.9:c.1480T>A MANE Select	ENSP00000259089.4:p.Tyr494Asn
ENST00000645242.1:c.1267T>A	ENSP00000494690.1:p.Tyr423Asn
ENST00000259089.8:c.1480T>A	ENSP00000259089.4:p.Tyr494Asn
ENST00000526097.1:n.1420T>A
ENST00000529894.1:c.1267T>A	ENSP00000433663.1:p.Tyr423Asn
NM_001715.2:c.1480T>A	NP_001706.2:p.Tyr494Asn
XM_011543824.1:c.1558T>A	XP_011542126.1:p.Tyr520Asn
XM_011543825.1:c.1558T>A	XP_011542127.1:p.Tyr520Asn
XM_011543826.1:c.1558T>A	XP_011542128.1:p.Tyr520Asn
XM_011543827.1:c.1345T>A	XP_011542129.1:p.Tyr449Asn
NM_001330465.1:c.1267T>A	NP_001317394.1:p.Tyr423Asn
XM_011543825.3:c.1558T>A	XP_011542127.1:p.Tyr520Asn
NM_001715.3:c.1480T>A MANE Select	NP_001706.2:p.Tyr494Asn
NM_001330465.2:c.1267T>A	NP_001317394.1:p.Tyr423Asn