Canonical Allele Identifier: CA370311638

Gene: BLK

Linked Data

• MyVariant Identifiers: chr8:g.11405624G>T (hg19) ; chr8:g.11548115G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.11548115G>T , CM000670.2:g.11548115G>T	GRCh38
NC_000008.10:g.11405624G>T , CM000670.1:g.11405624G>T	GRCh37
NC_000008.9:g.11443033G>T	NCBI36
NG_023543.1:g.59104G>T
NG_023543.2:g.59104G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696154.2:n.410G>T
ENST00000696154.1:c.46G>T	ENSP00000512445.1:p.Val16Phe
ENST00000259089.9:c.259G>T MANE Select	ENSP00000259089.4:p.Val87Phe
ENST00000645242.1:c.46G>T	ENSP00000494690.1:p.Val16Phe
ENST00000259089.8:c.259G>T	ENSP00000259089.4:p.Val87Phe
ENST00000529894.1:c.46G>T	ENSP00000433663.1:p.Val16Phe
ENST00000533828.1:n.457G>T
NM_001715.2:c.259G>T	NP_001706.2:p.Val87Phe
XM_011543824.1:c.259G>T	XP_011542126.1:p.Val87Phe
XM_011543825.1:c.259G>T	XP_011542127.1:p.Val87Phe
XM_011543826.1:c.259G>T	XP_011542128.1:p.Val87Phe
XM_011543827.1:c.46G>T	XP_011542129.1:p.Val16Phe
XM_011543828.1:c.259G>T	XP_011542130.1:p.Val87Phe
XM_011543829.1:c.259G>T	XP_011542131.1:p.Val87Phe
NM_001330465.1:c.46G>T	NP_001317394.1:p.Val16Phe
XM_011543825.3:c.259G>T	XP_011542127.1:p.Val87Phe
XM_011543828.3:c.259G>T	XP_011542130.1:p.Val87Phe
XM_011543829.3:c.259G>T	XP_011542131.1:p.Val87Phe
NM_001715.3:c.259G>T MANE Select	NP_001706.2:p.Val87Phe
NM_001330465.2:c.46G>T	NP_001317394.1:p.Val16Phe