Canonical Allele Identifier: CA370316928

Gene: BLK

Linked Data

• MyVariant Identifiers: chr8:g.11421541C>T (hg19) ; chr8:g.11564032C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.11564032C>T , CM000670.2:g.11564032C>T	GRCh38
NC_000008.10:g.11421541C>T , CM000670.1:g.11421541C>T	GRCh37
NC_000008.9:g.11458950C>T	NCBI36
NG_023543.1:g.75021C>T
NG_023543.2:g.75021C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696154.2:n.1550C>T
ENST00000696154.1:c.*760C>T	ENSP00000512445.1:n.*760C>T
ENST00000696155.1:n.326C>T
ENST00000259089.9:c.1442C>T MANE Select	ENSP00000259089.4:p.Pro481Leu
ENST00000645242.1:c.1229C>T	ENSP00000494690.1:p.Pro410Leu
ENST00000259089.8:c.1442C>T	ENSP00000259089.4:p.Pro481Leu
ENST00000526097.1:n.1382C>T
ENST00000529894.1:c.1229C>T	ENSP00000433663.1:p.Pro410Leu
NM_001715.2:c.1442C>T	NP_001706.2:p.Pro481Leu
XM_011543824.1:c.1520C>T	XP_011542126.1:p.Pro507Leu
XM_011543825.1:c.1520C>T	XP_011542127.1:p.Pro507Leu
XM_011543826.1:c.1520C>T	XP_011542128.1:p.Pro507Leu
XM_011543827.1:c.1307C>T	XP_011542129.1:p.Pro436Leu
NM_001330465.1:c.1229C>T	NP_001317394.1:p.Pro410Leu
XM_011543825.3:c.1520C>T	XP_011542127.1:p.Pro507Leu
NM_001715.3:c.1442C>T MANE Select	NP_001706.2:p.Pro481Leu
NM_001330465.2:c.1229C>T	NP_001317394.1:p.Pro410Leu