Canonical Allele Identifier: CA370316972

Gene: BLK

Linked Data

• gnomAD v4: 8-11564046-C-A
• MyVariant Identifiers: chr8:g.11421555C>A (hg19) ; chr8:g.11564046C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.11564046C>A , CM000670.2:g.11564046C>A	GRCh38
NC_000008.10:g.11421555C>A , CM000670.1:g.11421555C>A	GRCh37
NC_000008.9:g.11458964C>A	NCBI36
NG_023543.1:g.75035C>A
NG_023543.2:g.75035C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696154.2:n.1564C>A
ENST00000696154.1:c.*774C>A	ENSP00000512445.1:n.*774C>A
ENST00000696155.1:n.340C>A
ENST00000259089.9:c.1456C>A MANE Select	ENSP00000259089.4:p.Leu486Met
ENST00000645242.1:c.1243C>A	ENSP00000494690.1:p.Leu415Met
ENST00000259089.8:c.1456C>A	ENSP00000259089.4:p.Leu486Met
ENST00000526097.1:n.1396C>A
ENST00000529894.1:c.1243C>A	ENSP00000433663.1:p.Leu415Met
NM_001715.2:c.1456C>A	NP_001706.2:p.Leu486Met
XM_011543824.1:c.1534C>A	XP_011542126.1:p.Leu512Met
XM_011543825.1:c.1534C>A	XP_011542127.1:p.Leu512Met
XM_011543826.1:c.1534C>A	XP_011542128.1:p.Leu512Met
XM_011543827.1:c.1321C>A	XP_011542129.1:p.Leu441Met
NM_001330465.1:c.1243C>A	NP_001317394.1:p.Leu415Met
XM_011543825.3:c.1534C>A	XP_011542127.1:p.Leu512Met
NM_001715.3:c.1456C>A MANE Select	NP_001706.2:p.Leu486Met
NM_001330465.2:c.1243C>A	NP_001317394.1:p.Leu415Met