Canonical Allele Identifier: CA459320899

Gene: BLK

Linked Data

• dbSNP Id: rs1179651470
• gnomAD v4: 8-11564097-C-T
• MyVariant Identifiers: chr8:g.11421606C>T (hg19) ; chr8:g.11564097C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.11564097C>T , CM000670.2:g.11564097C>T	GRCh38
NC_000008.10:g.11421606C>T , CM000670.1:g.11421606C>T	GRCh37
NC_000008.9:g.11459015C>T	NCBI36
NG_023543.1:g.75086C>T
NG_023543.2:g.75086C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696154.2:n.1615C>T
ENST00000696154.1:c.*825C>T	ENSP00000512445.1:n.*825C>T
ENST00000696155.1:n.391C>T
ENST00000259089.9:c.1507C>T MANE Select	ENSP00000259089.4:p.Leu503=
ENST00000645242.1:c.1294C>T	ENSP00000494690.1:p.Leu432=
ENST00000259089.8:c.1507C>T	ENSP00000259089.4:p.Leu503=
ENST00000526097.1:n.1447C>T
ENST00000529894.1:c.1294C>T	ENSP00000433663.1:p.Leu432=
NM_001715.2:c.1507C>T	NP_001706.2:p.Leu503=
XM_011543824.1:c.1585C>T	XP_011542126.1:p.Leu529=
XM_011543825.1:c.1585C>T	XP_011542127.1:p.Leu529=
XM_011543826.1:c.1585C>T	XP_011542128.1:p.Leu529=
XM_011543827.1:c.1372C>T	XP_011542129.1:p.Leu458=
NM_001330465.1:c.1294C>T	NP_001317394.1:p.Leu432=
XM_011543825.3:c.1585C>T	XP_011542127.1:p.Leu529=
NM_001715.3:c.1507C>T MANE Select	NP_001706.2:p.Leu503=
NM_001330465.2:c.1294C>T	NP_001317394.1:p.Leu432=