Canonical Allele Identifier: CA172083284

Gene: BLK

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.11555389A>C , CM000670.2:g.11555389A>C	GRCh38
NC_000008.10:g.11412898A>C , CM000670.1:g.11412898A>C	GRCh37
NC_000008.9:g.11450307A>C	NCBI36
NG_023543.1:g.66378A>C
NG_023543.2:g.66378A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001715.3:c.677A>C MANE Select	NP_001706.2:p.Gln226Pro
ENST00000259089.9:c.677A>C MANE Select	ENSP00000259089.4:p.Gln226Pro
NM_001330465.1:c.464A>C	NP_001317394.1:p.Gln155Pro
NM_001330465.2:c.464A>C	NP_001317394.1:p.Gln155Pro
NM_001715.2:c.677A>C	NP_001706.2:p.Gln226Pro
ENST00000259089.8:c.677A>C	ENSP00000259089.4:p.Gln226Pro
ENST00000526778.1:n.474A>C
ENST00000529894.1:c.464A>C	ENSP00000433663.1:p.Gln155Pro
ENST00000645242.1:c.464A>C	ENSP00000494690.1:p.Gln155Pro
ENST00000696154.1:c.407-2A>C	ENSP00000512445.1:n.407-2A>C
ENST00000696154.2:n.771-2A>C
XM_011543824.1:c.677A>C	XP_011542126.1:p.Gln226Pro
XM_011543825.1:c.677A>C	XP_011542127.1:p.Gln226Pro
XM_011543825.3:c.677A>C	XP_011542127.1:p.Gln226Pro
XM_011543826.1:c.677A>C	XP_011542128.1:p.Gln226Pro
XM_011543827.1:c.464A>C	XP_011542129.1:p.Gln155Pro
XM_011543828.1:c.677A>C	XP_011542130.1:p.Gln226Pro
XM_011543828.3:c.677A>C	XP_011542130.1:p.Gln226Pro
XM_011543829.1:c.677A>C	XP_011542131.1:p.Gln226Pro
XM_011543829.3:c.677A>C	XP_011542131.1:p.Gln226Pro
XR_948955.1:n.85+329T>G
XR_948955.2:n.85+329T>G
XR_948956.1:n.85+329T>G
XR_948956.2:n.85+329T>G