Canonical Allele Identifier: CA459320857

Gene: BLK

Linked Data

• dbSNP Id: rs1416829978
• gnomAD v2: 8-11421542-C-G
• gnomAD v4: 8-11564033-C-G
• MyVariant Identifiers: chr8:g.11421542C>G (hg19) ; chr8:g.11564033C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.11564033C>G , CM000670.2:g.11564033C>G	GRCh38
NC_000008.10:g.11421542C>G , CM000670.1:g.11421542C>G	GRCh37
NC_000008.9:g.11458951C>G	NCBI36
NG_023543.1:g.75022C>G
NG_023543.2:g.75022C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696154.2:n.1551C>G
ENST00000696154.1:c.*761C>G	ENSP00000512445.1:n.*761C>G
ENST00000696155.1:n.327C>G
ENST00000259089.9:c.1443C>G MANE Select	ENSP00000259089.4:p.Pro481=
ENST00000645242.1:c.1230C>G	ENSP00000494690.1:p.Pro410=
ENST00000259089.8:c.1443C>G	ENSP00000259089.4:p.Pro481=
ENST00000526097.1:n.1383C>G
ENST00000529894.1:c.1230C>G	ENSP00000433663.1:p.Pro410=
NM_001715.2:c.1443C>G	NP_001706.2:p.Pro481=
XM_011543824.1:c.1521C>G	XP_011542126.1:p.Pro507=
XM_011543825.1:c.1521C>G	XP_011542127.1:p.Pro507=
XM_011543826.1:c.1521C>G	XP_011542128.1:p.Pro507=
XM_011543827.1:c.1308C>G	XP_011542129.1:p.Pro436=
NM_001330465.1:c.1230C>G	NP_001317394.1:p.Pro410=
XM_011543825.3:c.1521C>G	XP_011542127.1:p.Pro507=
NM_001715.3:c.1443C>G MANE Select	NP_001706.2:p.Pro481=
NM_001330465.2:c.1230C>G	NP_001317394.1:p.Pro410=