Canonical Allele Identifier: CA370316960

Gene: BLK

Linked Data

• dbSNP Id: rs1437057604
• gnomAD v2: 8-11421552-T-A
• gnomAD v4: 8-11564043-T-A
• MyVariant Identifiers: chr8:g.11421552T>A (hg19) ; chr8:g.11564043T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.11564043T>A , CM000670.2:g.11564043T>A	GRCh38
NC_000008.10:g.11421552T>A , CM000670.1:g.11421552T>A	GRCh37
NC_000008.9:g.11458961T>A	NCBI36
NG_023543.1:g.75032T>A
NG_023543.2:g.75032T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696154.2:n.1561T>A
ENST00000696154.1:c.*771T>A	ENSP00000512445.1:n.*771T>A
ENST00000696155.1:n.337T>A
ENST00000259089.9:c.1453T>A MANE Select	ENSP00000259089.4:p.Phe485Ile
ENST00000645242.1:c.1240T>A	ENSP00000494690.1:p.Phe414Ile
ENST00000259089.8:c.1453T>A	ENSP00000259089.4:p.Phe485Ile
ENST00000526097.1:n.1393T>A
ENST00000529894.1:c.1240T>A	ENSP00000433663.1:p.Phe414Ile
NM_001715.2:c.1453T>A	NP_001706.2:p.Phe485Ile
XM_011543824.1:c.1531T>A	XP_011542126.1:p.Phe511Ile
XM_011543825.1:c.1531T>A	XP_011542127.1:p.Phe511Ile
XM_011543826.1:c.1531T>A	XP_011542128.1:p.Phe511Ile
XM_011543827.1:c.1318T>A	XP_011542129.1:p.Phe440Ile
NM_001330465.1:c.1240T>A	NP_001317394.1:p.Phe414Ile
XM_011543825.3:c.1531T>A	XP_011542127.1:p.Phe511Ile
NM_001715.3:c.1453T>A MANE Select	NP_001706.2:p.Phe485Ile
NM_001330465.2:c.1240T>A	NP_001317394.1:p.Phe414Ile