Canonical Allele Identifier: CA2580082518

Gene: BLNK ZNF518A

Linked Data

• ClinVar Variation Id: 2096692
• ClinVar RCV Id: RCV003016315
• gnomAD v4: 10-96200169-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.96200169G>A , CM000672.2:g.96200169G>A	GRCh38
NC_000010.10:g.97959925G>A , CM000672.1:g.97959925G>A	GRCh37
NC_000010.9:g.97949915G>A	NCBI36
NG_007575.1:g.81402C>T , LRG_21:g.81402C>T
NG_033267.2:g.75950G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371176.7:c.943-11C>T (BLNK)	ENSP00000360218.2:n.943-11C>T
ENST00000467799.7:c.*482-11C>T (BLNK)	ENSP00000466331.3:n.*482-11C>T
ENST00000696248.1:c.697-11C>T (BLNK)	ENSP00000512505.1:n.697-11C>T
ENST00000696253.1:c.943-11C>T (BLNK)	ENSP00000512506.1:n.943-11C>T
ENST00000696255.1:c.581-11C>T (BLNK)	ENSP00000512507.1:n.581-11C>T
ENST00000696257.1:c.*675-11C>T (BLNK)	ENSP00000512509.1:n.*675-11C>T
ENST00000696513.1:c.1012-11C>T (BLNK)	ENSP00000512679.1:n.1012-11C>T
ENST00000696514.1:c.1000-11C>T (BLNK)	ENSP00000512680.1:n.1000-11C>T
ENST00000696515.1:n.1280-11C>T (BLNK)
ENST00000696516.1:c.784-11C>T (BLNK)	ENSP00000512681.1:n.784-11C>T
ENST00000696517.1:c.779-11C>T (BLNK)	ENSP00000512682.1:n.779-11C>T
ENST00000696518.1:c.873-11C>T (BLNK)	ENSP00000512683.1:n.873-11C>T
ENST00000696519.1:c.962-11C>T (BLNK)	ENSP00000512684.1:n.962-11C>T
ENST00000696521.1:c.962-11C>T (BLNK)	ENSP00000512685.1:n.962-11C>T
ENST00000696522.1:c.852-11C>T (BLNK)	ENSP00000512686.1:n.852-11C>T
ENST00000696523.1:c.823-11C>T (BLNK)	ENSP00000512687.1:n.823-11C>T
ENST00000224337.10:c.1012-11C>T (BLNK) MANE Select	ENSP00000224337.6:n.1012-11C>T
ENST00000224337.9:c.1012-11C>T (BLNK)	ENSP00000224337.5:n.1012-11C>T
ENST00000371176.6:c.943-11C>T (BLNK)	ENSP00000360218.2:n.943-11C>T
ENST00000413476.6:c.1012-11C>T (BLNK)	ENSP00000397487.2:n.1012-11C>T
ENST00000427367.6:c.697-11C>T (BLNK)	ENSP00000391924.3:n.697-11C>T
ENST00000442635.2:n.36-3405G>A (ZNF518A)
ENST00000485193.1:n.433-11C>T (BLNK)
ENST00000563195.1:n.226-3751G>A (ZNF518A)
NM_001114094.1:c.943-11C>T (BLNK)	NP_001107566.1:n.943-11C>T
NM_001258440.1:c.1012-11C>T (BLNK)	NP_001245369.1:n.1012-11C>T
NM_001258441.1:c.943-11C>T (BLNK)	NP_001245370.1:n.943-11C>T
NM_001258442.1:c.697-11C>T (BLNK)	NP_001245371.1:n.697-11C>T
NM_013314.3:c.1012-11C>T , LRG_21t1:c.1012-11C>T (BLNK)	NP_037446.1:n.1012-11C>T
NR_047680.1:n.954-11C>T (BLNK)
NR_047681.1:n.902-11C>T (BLNK)
NR_047682.1:n.897-11C>T (BLNK)
NR_047683.1:n.991-11C>T (BLNK)
XM_011539728.1:c.1012-11C>T (BLNK)	XP_011538030.1:n.1012-11C>T
NR_138482.1:n.430-3405G>A (ZNF518A)
XM_011539728.2:c.1012-11C>T (BLNK)	XP_011538030.1:n.1012-11C>T
XM_017016159.1:c.943-11C>T (BLNK)	XP_016871648.1:n.943-11C>T
NM_013314.4:c.1012-11C>T (BLNK) MANE Select	NP_037446.1:n.1012-11C>T
NM_001114094.2:c.943-11C>T (BLNK)	NP_001107566.1:n.943-11C>T
NM_001258440.2:c.1012-11C>T (BLNK)	NP_001245369.1:n.1012-11C>T
NM_001258441.2:c.943-11C>T (BLNK)	NP_001245370.1:n.943-11C>T
NM_001258442.2:c.697-11C>T (BLNK)	NP_001245371.1:n.697-11C>T
NR_047680.2:n.1007-11C>T (BLNK)
NR_047681.2:n.955-11C>T (BLNK)
NR_047682.2:n.950-11C>T (BLNK)
NR_047683.2:n.1044-11C>T (BLNK)