Canonical Allele Identifier: CA5623173
Gene: BLNK HGNC NCBI
ZNF518A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.96197045G>A , CM000672.2:g.96197045G>A GRCh38
NC_000010.10:g.97956801G>A , CM000672.1:g.97956801G>A GRCh37
NC_000010.9:g.97946791G>A NCBI36
NG_007575.1:g.84526C>T , LRG_21:g.84526C>T
NG_033267.2:g.72826G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000371176.7:c.1045C>T (BLNK) ENSP00000360218.2:p.Arg349Trp
ENST00000467799.7:c.*584C>T (BLNK) ENSP00000466331.3:n.*584C>T
ENST00000696248.1:c.780+3030C>T (BLNK) ENSP00000512505.1:n.780+3030C>T
ENST00000696253.1:c.1026+3030C>T (BLNK) ENSP00000512506.1:n.1026+3030C>T
ENST00000696255.1:c.683C>T (BLNK) ENSP00000512507.1:n.683C>T
ENST00000696257.1:c.*777C>T (BLNK) ENSP00000512509.1:n.*777C>T
ENST00000696513.1:c.1114C>T (BLNK) ENSP00000512679.1:p.Arg372Trp
ENST00000696514.1:c.1102C>T (BLNK) ENSP00000512680.1:p.Arg368Trp
ENST00000696515.1:n.1382C>T (BLNK)
ENST00000696516.1:c.886C>T (BLNK) ENSP00000512681.1:n.886C>T
ENST00000696517.1:c.881C>T (BLNK) ENSP00000512682.1:n.881C>T
ENST00000696518.1:c.956+3030C>T (BLNK) ENSP00000512683.1:n.956+3030C>T
ENST00000696519.1:c.1045+3030C>T (BLNK) ENSP00000512684.1:n.1045+3030C>T
ENST00000696521.1:c.1064C>T (BLNK) ENSP00000512685.1:n.1064C>T
ENST00000696522.1:c.954C>T (BLNK) ENSP00000512686.1:n.954C>T
ENST00000696523.1:c.906+3030C>T (BLNK) ENSP00000512687.1:n.906+3030C>T
ENST00000224337.10:c.1114C>T (BLNK) MANE Select ENSP00000224337.6:p.Arg372Trp
ENST00000224337.9:c.1114C>T (BLNK) ENSP00000224337.5:p.Arg372Trp
ENST00000371176.6:c.1045C>T (BLNK) ENSP00000360218.2:p.Arg349Trp
ENST00000413476.6:c.1095+3030C>T (BLNK) ENSP00000397487.2:n.1095+3030C>T
ENST00000427367.6:c.780+3030C>T (BLNK) ENSP00000391924.3:n.780+3030C>T
ENST00000442635.2:n.36-6529G>A (ZNF518A)
ENST00000563195.1:n.226-6875G>A (ZNF518A)
NM_001114094.1:c.1045C>T (BLNK) NP_001107566.1:p.Arg349Trp
NM_001258440.1:c.1095+3030C>T (BLNK) NP_001245369.1:n.1095+3030C>T
NM_001258441.1:c.1026+3030C>T (BLNK) NP_001245370.1:n.1026+3030C>T
NM_001258442.1:c.780+3030C>T (BLNK) NP_001245371.1:n.780+3030C>T
NM_013314.3:c.1114C>T , LRG_21t1:c.1114C>T (BLNK) NP_037446.1:p.Arg372Trp
NR_047680.1:n.1056C>T (BLNK)
NR_047681.1:n.1004C>T (BLNK)
NR_047682.1:n.999C>T (BLNK)
NR_047683.1:n.1074+3030C>T (BLNK)
XM_011539728.1:c.1114C>T (BLNK) XP_011538030.1:p.Arg372Trp
NR_138482.1:n.430-6529G>A (ZNF518A)
XM_011539728.2:c.1114C>T (BLNK) XP_011538030.1:p.Arg372Trp
XM_017016159.1:c.1045C>T (BLNK) XP_016871648.1:p.Arg349Trp
NM_013314.4:c.1114C>T (BLNK) MANE Select NP_037446.1:p.Arg372Trp
NM_001114094.2:c.1045C>T (BLNK) NP_001107566.1:p.Arg349Trp
NM_001258440.2:c.1095+3030C>T (BLNK) NP_001245369.1:n.1095+3030C>T
NM_001258441.2:c.1026+3030C>T (BLNK) NP_001245370.1:n.1026+3030C>T
NM_001258442.2:c.780+3030C>T (BLNK) NP_001245371.1:n.780+3030C>T
NR_047680.2:n.1109C>T (BLNK)
NR_047681.2:n.1057C>T (BLNK)
NR_047682.2:n.1052C>T (BLNK)
NR_047683.2:n.1127+3030C>T (BLNK)