Canonical Allele Identifier: CA5623258
Gene: BLNK HGNC NCBI
ZNF518A HGNC NCBI

Linked Data

ClinVar Variation Id: 444234
dbSNP Id: rs144266674

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.96204068A>G , CM000672.2:g.96204068A>G GRCh38
NC_000010.10:g.97963824A>G , CM000672.1:g.97963824A>G GRCh37
NC_000010.9:g.97953814A>G NCBI36
NG_007575.1:g.77503T>C , LRG_21:g.77503T>C
NG_033267.2:g.79849A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000371176.7:c.854T>C (BLNK) ENSP00000360218.2:p.Ile285Thr
ENST00000467799.7:c.*393T>C (BLNK) ENSP00000466331.3:n.*393T>C
ENST00000468252.2:n.643T>C (BLNK)
ENST00000696248.1:c.608T>C (BLNK) ENSP00000512505.1:p.Ile203Thr
ENST00000696253.1:c.854T>C (BLNK) ENSP00000512506.1:p.Ile285Thr
ENST00000696255.1:c.492T>C (BLNK) ENSP00000512507.1:n.492T>C
ENST00000696257.1:c.*586T>C (BLNK) ENSP00000512509.1:n.*586T>C
ENST00000696513.1:c.923T>C (BLNK) ENSP00000512679.1:p.Ile308Thr
ENST00000696514.1:c.911T>C (BLNK) ENSP00000512680.1:p.Ile304Thr
ENST00000696515.1:n.1191T>C (BLNK)
ENST00000696516.1:c.695T>C (BLNK) ENSP00000512681.1:n.695T>C
ENST00000696517.1:c.690T>C (BLNK) ENSP00000512682.1:n.690T>C
ENST00000696518.1:c.784T>C (BLNK) ENSP00000512683.1:n.784T>C
ENST00000696519.1:c.873T>C (BLNK) ENSP00000512684.1:n.873T>C
ENST00000696521.1:c.873T>C (BLNK) ENSP00000512685.1:n.873T>C
ENST00000696522.1:c.763T>C (BLNK) ENSP00000512686.1:n.763T>C
ENST00000696523.1:c.734T>C (BLNK) ENSP00000512687.1:n.734T>C
ENST00000224337.10:c.923T>C (BLNK) MANE Select ENSP00000224337.6:p.Ile308Thr
ENST00000224337.9:c.923T>C (BLNK) ENSP00000224337.5:p.Ile308Thr
ENST00000371176.6:c.854T>C (BLNK) ENSP00000360218.2:p.Ile285Thr
ENST00000413476.6:c.923T>C (BLNK) ENSP00000397487.2:p.Ile308Thr
ENST00000427367.6:c.608T>C (BLNK) ENSP00000391924.3:p.Ile203Thr
ENST00000442635.2:n.239A>G (ZNF518A)
ENST00000485193.1:n.344T>C (BLNK)
ENST00000563195.1:n.374A>G (ZNF518A)
NM_001114094.1:c.854T>C (BLNK) NP_001107566.1:p.Ile285Thr
NM_001258440.1:c.923T>C (BLNK) NP_001245369.1:p.Ile308Thr
NM_001258441.1:c.854T>C (BLNK) NP_001245370.1:p.Ile285Thr
NM_001258442.1:c.608T>C (BLNK) NP_001245371.1:p.Ile203Thr
NM_013314.3:c.923T>C , LRG_21t1:c.923T>C (BLNK) NP_037446.1:p.Ile308Thr
NR_047680.1:n.865T>C (BLNK)
NR_047681.1:n.813T>C (BLNK)
NR_047682.1:n.808T>C (BLNK)
NR_047683.1:n.902T>C (BLNK)
XM_011539728.1:c.923T>C (BLNK) XP_011538030.1:p.Ile308Thr
NR_138482.1:n.633A>G (ZNF518A)
XM_011539728.2:c.923T>C (BLNK) XP_011538030.1:p.Ile308Thr
XM_017016159.1:c.854T>C (BLNK) XP_016871648.1:p.Ile285Thr
NM_013314.4:c.923T>C (BLNK) MANE Select NP_037446.1:p.Ile308Thr
NM_001114094.2:c.854T>C (BLNK) NP_001107566.1:p.Ile285Thr
NM_001258440.2:c.923T>C (BLNK) NP_001245369.1:p.Ile308Thr
NM_001258441.2:c.854T>C (BLNK) NP_001245370.1:p.Ile285Thr
NM_001258442.2:c.608T>C (BLNK) NP_001245371.1:p.Ile203Thr
NR_047680.2:n.918T>C (BLNK)
NR_047681.2:n.866T>C (BLNK)
NR_047682.2:n.861T>C (BLNK)
NR_047683.2:n.955T>C (BLNK)