Canonical Allele Identifier: CA579799588

Gene: BLK

Linked Data

• dbSNP Id: rs1307752315
• gnomAD v2: 8-11422057-G-T
• gnomAD v4: 8-11564548-G-T
• MyVariant Identifiers: chr8:g.11422057G>T (hg19) ; chr8:g.11564548G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.11564548G>T , CM000670.2:g.11564548G>T	GRCh38
NC_000008.10:g.11422057G>T , CM000670.1:g.11422057G>T	GRCh37
NC_000008.9:g.11459466G>T	NCBI36
NG_023543.1:g.75537G>T
NG_023543.2:g.75537G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696154.2:n.2066G>T
ENST00000696154.1:c.*1276G>T	ENSP00000512445.1:n.*1276G>T
ENST00000259089.9:c.*440G>T MANE Select	ENSP00000259089.4:n.*440G>T
ENST00000645242.1:c.*440G>T	ENSP00000494690.1:n.*440G>T
ENST00000259089.8:c.*440G>T	ENSP00000259089.4:n.*440G>T
ENST00000526097.1:n.1898G>T
NM_001715.2:c.*440G>T	NP_001706.2:n.*440G>T
XM_011543824.1:c.*440G>T	XP_011542126.1:n.*440G>T
XM_011543825.1:c.*440G>T	XP_011542127.1:n.*440G>T
XM_011543826.1:c.*440G>T	XP_011542128.1:n.*440G>T
XM_011543827.1:c.*440G>T	XP_011542129.1:n.*440G>T
NM_001330465.1:c.*440G>T	NP_001317394.1:n.*440G>T
XM_011543825.3:c.*440G>T	XP_011542127.1:n.*440G>T
NM_001715.3:c.*440G>T MANE Select	NP_001706.2:n.*440G>T
NM_001330465.2:c.*440G>T	NP_001317394.1:n.*440G>T