Canonical Allele Identifier: CA370316714

Gene: BLK

Linked Data

• gnomAD v4: 8-11563966-C-T
• MyVariant Identifiers: chr8:g.11421475C>T (hg19) ; chr8:g.11563966C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.11563966C>T , CM000670.2:g.11563966C>T	GRCh38
NC_000008.10:g.11421475C>T , CM000670.1:g.11421475C>T	GRCh37
NC_000008.9:g.11458884C>T	NCBI36
NG_023543.1:g.74955C>T
NG_023543.2:g.74955C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696154.2:n.1484C>T
ENST00000696154.1:c.*694C>T	ENSP00000512445.1:n.*694C>T
ENST00000696155.1:n.260C>T
ENST00000259089.9:c.1376C>T MANE Select	ENSP00000259089.4:p.Thr459Ile
ENST00000645242.1:c.1163C>T	ENSP00000494690.1:p.Thr388Ile
ENST00000259089.8:c.1376C>T	ENSP00000259089.4:p.Thr459Ile
ENST00000526097.1:n.1316C>T
ENST00000529894.1:c.1163C>T	ENSP00000433663.1:p.Thr388Ile
NM_001715.2:c.1376C>T	NP_001706.2:p.Thr459Ile
XM_011543824.1:c.1454C>T	XP_011542126.1:p.Thr485Ile
XM_011543825.1:c.1454C>T	XP_011542127.1:p.Thr485Ile
XM_011543826.1:c.1454C>T	XP_011542128.1:p.Thr485Ile
XM_011543827.1:c.1241C>T	XP_011542129.1:p.Thr414Ile
NM_001330465.1:c.1163C>T	NP_001317394.1:p.Thr388Ile
XM_011543825.3:c.1454C>T	XP_011542127.1:p.Thr485Ile
NM_001715.3:c.1376C>T MANE Select	NP_001706.2:p.Thr459Ile
NM_001330465.2:c.1163C>T	NP_001317394.1:p.Thr388Ile