Canonical Allele Identifier: CA370316695

Gene: BLK

Linked Data

• ClinVar Variation Id: 2439526
• ClinVar RCV Id: RCV003143795
• dbSNP Id: rs1801609200
• gnomAD v4: 8-11563960-C-T
• MyVariant Identifiers: chr8:g.11421469C>T (hg19) ; chr8:g.11563960C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.11563960C>T , CM000670.2:g.11563960C>T	GRCh38
NC_000008.10:g.11421469C>T , CM000670.1:g.11421469C>T	GRCh37
NC_000008.9:g.11458878C>T	NCBI36
NG_023543.1:g.74949C>T
NG_023543.2:g.74949C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696154.2:n.1478C>T
ENST00000696154.1:c.*688C>T	ENSP00000512445.1:n.*688C>T
ENST00000696155.1:n.254C>T
ENST00000259089.9:c.1370C>T MANE Select	ENSP00000259089.4:p.Pro457Leu
ENST00000645242.1:c.1157C>T	ENSP00000494690.1:p.Pro386Leu
ENST00000259089.8:c.1370C>T	ENSP00000259089.4:p.Pro457Leu
ENST00000526097.1:n.1310C>T
ENST00000529894.1:c.1157C>T	ENSP00000433663.1:p.Pro386Leu
NM_001715.2:c.1370C>T	NP_001706.2:p.Pro457Leu
XM_011543824.1:c.1448C>T	XP_011542126.1:p.Pro483Leu
XM_011543825.1:c.1448C>T	XP_011542127.1:p.Pro483Leu
XM_011543826.1:c.1448C>T	XP_011542128.1:p.Pro483Leu
XM_011543827.1:c.1235C>T	XP_011542129.1:p.Pro412Leu
NM_001330465.1:c.1157C>T	NP_001317394.1:p.Pro386Leu
XM_011543825.3:c.1448C>T	XP_011542127.1:p.Pro483Leu
NM_001715.3:c.1370C>T MANE Select	NP_001706.2:p.Pro457Leu
NM_001330465.2:c.1157C>T	NP_001317394.1:p.Pro386Leu