Canonical Allele Identifier: CA370316791

Gene: BLK

Linked Data

• gnomAD v4: 8-11563990-G-T
• MyVariant Identifiers: chr8:g.11421499G>T (hg19) ; chr8:g.11563990G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.11563990G>T , CM000670.2:g.11563990G>T	GRCh38
NC_000008.10:g.11421499G>T , CM000670.1:g.11421499G>T	GRCh37
NC_000008.9:g.11458908G>T	NCBI36
NG_023543.1:g.74979G>T
NG_023543.2:g.74979G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696154.2:n.1508G>T
ENST00000696154.1:c.*718G>T	ENSP00000512445.1:n.*718G>T
ENST00000696155.1:n.284G>T
ENST00000259089.9:c.1400G>T MANE Select	ENSP00000259089.4:p.Gly467Val
ENST00000645242.1:c.1187G>T	ENSP00000494690.1:p.Gly396Val
ENST00000259089.8:c.1400G>T	ENSP00000259089.4:p.Gly467Val
ENST00000526097.1:n.1340G>T
ENST00000529894.1:c.1187G>T	ENSP00000433663.1:p.Gly396Val
NM_001715.2:c.1400G>T	NP_001706.2:p.Gly467Val
XM_011543824.1:c.1478G>T	XP_011542126.1:p.Gly493Val
XM_011543825.1:c.1478G>T	XP_011542127.1:p.Gly493Val
XM_011543826.1:c.1478G>T	XP_011542128.1:p.Gly493Val
XM_011543827.1:c.1265G>T	XP_011542129.1:p.Gly422Val
NM_001330465.1:c.1187G>T	NP_001317394.1:p.Gly396Val
XM_011543825.3:c.1478G>T	XP_011542127.1:p.Gly493Val
NM_001715.3:c.1400G>T MANE Select	NP_001706.2:p.Gly467Val
NM_001330465.2:c.1187G>T	NP_001317394.1:p.Gly396Val