Canonical Allele Identifier: CA370316974

Gene: BLK

Linked Data

• dbSNP Id: rs761100058
• gnomAD v4: 8-11564046-C-G
• MyVariant Identifiers: chr8:g.11421555C>G (hg19) ; chr8:g.11564046C>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696154.2:n.1564C>G
ENST00000696154.1:c.*774C>G	ENSP00000512445.1:n.*774C>G
ENST00000696155.1:n.340C>G
ENST00000259089.9:c.1456C>G MANE Select	ENSP00000259089.4:p.Leu486Val
ENST00000645242.1:c.1243C>G	ENSP00000494690.1:p.Leu415Val
ENST00000259089.8:c.1456C>G	ENSP00000259089.4:p.Leu486Val
ENST00000526097.1:n.1396C>G
ENST00000529894.1:c.1243C>G	ENSP00000433663.1:p.Leu415Val
NM_001715.2:c.1456C>G	NP_001706.2:p.Leu486Val
XM_011543824.1:c.1534C>G	XP_011542126.1:p.Leu512Val
XM_011543825.1:c.1534C>G	XP_011542127.1:p.Leu512Val
XM_011543826.1:c.1534C>G	XP_011542128.1:p.Leu512Val
XM_011543827.1:c.1321C>G	XP_011542129.1:p.Leu441Val
NM_001330465.1:c.1243C>G	NP_001317394.1:p.Leu415Val
XM_011543825.3:c.1534C>G	XP_011542127.1:p.Leu512Val
NM_001715.3:c.1456C>G MANE Select	NP_001706.2:p.Leu486Val
NM_001330465.2:c.1243C>G	NP_001317394.1:p.Leu415Val