Canonical Allele Identifier: CA377715064
Gene: BLNK HGNC NCBI
ZNF518A HGNC NCBI

Linked Data

ClinVar Variation Id: 2135600
ClinVar RCV Id: RCV003048701

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.96192023T>A , CM000672.2:g.96192023T>A GRCh38
NC_000010.10:g.97951779T>A , CM000672.1:g.97951779T>A GRCh37
NC_000010.9:g.97941769T>A NCBI36
NG_007575.1:g.89548A>T , LRG_21:g.89548A>T
NG_033267.2:g.67804T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000371176.7:c.1252A>T (BLNK) ENSP00000360218.2:p.Asn418Tyr
ENST00000467799.7:c.*791A>T (BLNK) ENSP00000466331.3:n.*791A>T
ENST00000696248.1:c.850A>T (BLNK) ENSP00000512505.1:p.Asn284Tyr
ENST00000696253.1:c.1096A>T (BLNK) ENSP00000512506.1:p.Asn366Tyr
ENST00000696255.1:c.890A>T (BLNK) ENSP00000512507.1:n.890A>T
ENST00000696257.1:c.*984A>T (BLNK) ENSP00000512509.1:n.*984A>T
ENST00000696513.1:c.*105A>T (BLNK) ENSP00000512679.1:n.*105A>T
ENST00000696514.1:c.1309A>T (BLNK) ENSP00000512680.1:p.Asn437Tyr
ENST00000696515.1:n.1589A>T (BLNK)
ENST00000696516.1:c.1093A>T (BLNK) ENSP00000512681.1:n.1093A>T
ENST00000696517.1:c.1088A>T (BLNK) ENSP00000512682.1:n.1088A>T
ENST00000696518.1:c.1026A>T (BLNK) ENSP00000512683.1:n.1026A>T
ENST00000696519.1:c.1115A>T (BLNK) ENSP00000512684.1:n.1115A>T
ENST00000696521.1:c.1271A>T (BLNK) ENSP00000512685.1:n.1271A>T
ENST00000696522.1:c.1161A>T (BLNK) ENSP00000512686.1:n.1161A>T
ENST00000696523.1:c.976A>T (BLNK) ENSP00000512687.1:n.976A>T
ENST00000224337.10:c.1321A>T (BLNK) MANE Select ENSP00000224337.6:p.Asn441Tyr
ENST00000224337.9:c.1321A>T (BLNK) ENSP00000224337.5:p.Asn441Tyr
ENST00000371176.6:c.1252A>T (BLNK) ENSP00000360218.2:p.Asn418Tyr
ENST00000413476.6:c.1165A>T (BLNK) ENSP00000397487.2:p.Asn389Tyr
ENST00000427367.6:c.850A>T (BLNK) ENSP00000391924.3:p.Asn284Tyr
ENST00000442635.2:n.36-11551T>A (ZNF518A)
ENST00000563195.1:n.226-11897T>A (ZNF518A)
NM_001114094.1:c.1252A>T (BLNK) NP_001107566.1:p.Asn418Tyr
NM_001258440.1:c.1165A>T (BLNK) NP_001245369.1:p.Asn389Tyr
NM_001258441.1:c.1096A>T (BLNK) NP_001245370.1:p.Asn366Tyr
NM_001258442.1:c.850A>T (BLNK) NP_001245371.1:p.Asn284Tyr
NM_013314.3:c.1321A>T , LRG_21t1:c.1321A>T (BLNK) NP_037446.1:p.Asn441Tyr
NR_047680.1:n.1263A>T (BLNK)
NR_047681.1:n.1211A>T (BLNK)
NR_047682.1:n.1206A>T (BLNK)
NR_047683.1:n.1144A>T (BLNK)
XM_011539728.1:c.1321A>T (BLNK) XP_011538030.1:p.Asn441Tyr
NR_138482.1:n.430-11551T>A (ZNF518A)
XM_011539728.2:c.1321A>T (BLNK) XP_011538030.1:p.Asn441Tyr
XM_017016159.1:c.1252A>T (BLNK) XP_016871648.1:p.Asn418Tyr
NM_013314.4:c.1321A>T (BLNK) MANE Select NP_037446.1:p.Asn441Tyr
NM_001114094.2:c.1252A>T (BLNK) NP_001107566.1:p.Asn418Tyr
NM_001258440.2:c.1165A>T (BLNK) NP_001245369.1:p.Asn389Tyr
NM_001258441.2:c.1096A>T (BLNK) NP_001245370.1:p.Asn366Tyr
NM_001258442.2:c.850A>T (BLNK) NP_001245371.1:p.Asn284Tyr
NR_047680.2:n.1316A>T (BLNK)
NR_047681.2:n.1264A>T (BLNK)
NR_047682.2:n.1259A>T (BLNK)
NR_047683.2:n.1197A>T (BLNK)