Canonical Allele Identifier: CA370316991

Gene: BLK

Linked Data

• gnomAD v4: 8-11564053-C-T
• MyVariant Identifiers: chr8:g.11421562C>T (hg19) ; chr8:g.11564053C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.11564053C>T , CM000670.2:g.11564053C>T	GRCh38
NC_000008.10:g.11421562C>T , CM000670.1:g.11421562C>T	GRCh37
NC_000008.9:g.11458971C>T	NCBI36
NG_023543.1:g.75042C>T
NG_023543.2:g.75042C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696154.2:n.1571C>T
ENST00000696154.1:c.*781C>T	ENSP00000512445.1:n.*781C>T
ENST00000696155.1:n.347C>T
ENST00000259089.9:c.1463C>T MANE Select	ENSP00000259089.4:p.Ser488Leu
ENST00000645242.1:c.1250C>T	ENSP00000494690.1:p.Ser417Leu
ENST00000259089.8:c.1463C>T	ENSP00000259089.4:p.Ser488Leu
ENST00000526097.1:n.1403C>T
ENST00000529894.1:c.1250C>T	ENSP00000433663.1:p.Ser417Leu
NM_001715.2:c.1463C>T	NP_001706.2:p.Ser488Leu
XM_011543824.1:c.1541C>T	XP_011542126.1:p.Ser514Leu
XM_011543825.1:c.1541C>T	XP_011542127.1:p.Ser514Leu
XM_011543826.1:c.1541C>T	XP_011542128.1:p.Ser514Leu
XM_011543827.1:c.1328C>T	XP_011542129.1:p.Ser443Leu
NM_001330465.1:c.1250C>T	NP_001317394.1:p.Ser417Leu
XM_011543825.3:c.1541C>T	XP_011542127.1:p.Ser514Leu
NM_001715.3:c.1463C>T MANE Select	NP_001706.2:p.Ser488Leu
NM_001330465.2:c.1250C>T	NP_001317394.1:p.Ser417Leu