Canonical Allele Identifier: CA370316860

Gene: BLK

Linked Data

• gnomAD v4: 8-11564011-G-T
• MyVariant Identifiers: chr8:g.11421520G>T (hg19) ; chr8:g.11564011G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.11564011G>T , CM000670.2:g.11564011G>T	GRCh38
NC_000008.10:g.11421520G>T , CM000670.1:g.11421520G>T	GRCh37
NC_000008.9:g.11458929G>T	NCBI36
NG_023543.1:g.75000G>T
NG_023543.2:g.75000G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696154.2:n.1529G>T
ENST00000696154.1:c.*739G>T	ENSP00000512445.1:n.*739G>T
ENST00000696155.1:n.305G>T
ENST00000259089.9:c.1421G>T MANE Select	ENSP00000259089.4:p.Arg474Leu
ENST00000645242.1:c.1208G>T	ENSP00000494690.1:p.Arg403Leu
ENST00000259089.8:c.1421G>T	ENSP00000259089.4:p.Arg474Leu
ENST00000526097.1:n.1361G>T
ENST00000529894.1:c.1208G>T	ENSP00000433663.1:p.Arg403Leu
NM_001715.2:c.1421G>T	NP_001706.2:p.Arg474Leu
XM_011543824.1:c.1499G>T	XP_011542126.1:p.Arg500Leu
XM_011543825.1:c.1499G>T	XP_011542127.1:p.Arg500Leu
XM_011543826.1:c.1499G>T	XP_011542128.1:p.Arg500Leu
XM_011543827.1:c.1286G>T	XP_011542129.1:p.Arg429Leu
NM_001330465.1:c.1208G>T	NP_001317394.1:p.Arg403Leu
XM_011543825.3:c.1499G>T	XP_011542127.1:p.Arg500Leu
NM_001715.3:c.1421G>T MANE Select	NP_001706.2:p.Arg474Leu
NM_001330465.2:c.1208G>T	NP_001317394.1:p.Arg403Leu