Canonical Allele Identifier: CA370316969

Gene: BLK

Linked Data

• dbSNP Id: rs1332609413
• gnomAD v2: 8-11421554-C-A
• gnomAD v4: 8-11564045-C-A
• MyVariant Identifiers: chr8:g.11421554C>A (hg19) ; chr8:g.11564045C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.11564045C>A , CM000670.2:g.11564045C>A	GRCh38
NC_000008.10:g.11421554C>A , CM000670.1:g.11421554C>A	GRCh37
NC_000008.9:g.11458963C>A	NCBI36
NG_023543.1:g.75034C>A
NG_023543.2:g.75034C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696154.2:n.1563C>A
ENST00000696154.1:c.*773C>A	ENSP00000512445.1:n.*773C>A
ENST00000696155.1:n.339C>A
ENST00000259089.9:c.1455C>A MANE Select	ENSP00000259089.4:p.Phe485Leu
ENST00000645242.1:c.1242C>A	ENSP00000494690.1:p.Phe414Leu
ENST00000259089.8:c.1455C>A	ENSP00000259089.4:p.Phe485Leu
ENST00000526097.1:n.1395C>A
ENST00000529894.1:c.1242C>A	ENSP00000433663.1:p.Phe414Leu
NM_001715.2:c.1455C>A	NP_001706.2:p.Phe485Leu
XM_011543824.1:c.1533C>A	XP_011542126.1:p.Phe511Leu
XM_011543825.1:c.1533C>A	XP_011542127.1:p.Phe511Leu
XM_011543826.1:c.1533C>A	XP_011542128.1:p.Phe511Leu
XM_011543827.1:c.1320C>A	XP_011542129.1:p.Phe440Leu
NM_001330465.1:c.1242C>A	NP_001317394.1:p.Phe414Leu
XM_011543825.3:c.1533C>A	XP_011542127.1:p.Phe511Leu
NM_001715.3:c.1455C>A MANE Select	NP_001706.2:p.Phe485Leu
NM_001330465.2:c.1242C>A	NP_001317394.1:p.Phe414Leu