Canonical Allele Identifier: CA377715094

Gene: BLNK ZNF518A

Linked Data

• ClinVar Variation Id: 1478872
• ClinVar RCV Id: RCV001990804
• dbSNP Id: rs2133908110
• MyVariant Identifiers: chr10:g.97951787T>C (hg19) ; chr10:g.96192031T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.96192031T>C , CM000672.2:g.96192031T>C	GRCh38
NC_000010.10:g.97951787T>C , CM000672.1:g.97951787T>C	GRCh37
NC_000010.9:g.97941777T>C	NCBI36
NG_007575.1:g.89540A>G , LRG_21:g.89540A>G
NG_033267.2:g.67812T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371176.7:c.1244A>G (BLNK)	ENSP00000360218.2:p.Asp415Gly
ENST00000467799.7:c.*783A>G (BLNK)	ENSP00000466331.3:n.*783A>G
ENST00000696248.1:c.842A>G (BLNK)	ENSP00000512505.1:p.Asp281Gly
ENST00000696253.1:c.1088A>G (BLNK)	ENSP00000512506.1:p.Asp363Gly
ENST00000696255.1:c.882A>G (BLNK)	ENSP00000512507.1:n.882A>G
ENST00000696257.1:c.*976A>G (BLNK)	ENSP00000512509.1:n.*976A>G
ENST00000696513.1:c.*97A>G (BLNK)	ENSP00000512679.1:n.*97A>G
ENST00000696514.1:c.1301A>G (BLNK)	ENSP00000512680.1:p.Asp434Gly
ENST00000696515.1:n.1581A>G (BLNK)
ENST00000696516.1:c.1085A>G (BLNK)	ENSP00000512681.1:n.1085A>G
ENST00000696517.1:c.1080A>G (BLNK)	ENSP00000512682.1:n.1080A>G
ENST00000696518.1:c.1018A>G (BLNK)	ENSP00000512683.1:n.1018A>G
ENST00000696519.1:c.1107A>G (BLNK)	ENSP00000512684.1:n.1107A>G
ENST00000696521.1:c.1263A>G (BLNK)	ENSP00000512685.1:n.1263A>G
ENST00000696522.1:c.1153A>G (BLNK)	ENSP00000512686.1:n.1153A>G
ENST00000696523.1:c.968A>G (BLNK)	ENSP00000512687.1:n.968A>G
ENST00000224337.10:c.1313A>G (BLNK) MANE Select	ENSP00000224337.6:p.Asp438Gly
ENST00000224337.9:c.1313A>G (BLNK)	ENSP00000224337.5:p.Asp438Gly
ENST00000371176.6:c.1244A>G (BLNK)	ENSP00000360218.2:p.Asp415Gly
ENST00000413476.6:c.1157A>G (BLNK)	ENSP00000397487.2:p.Asp386Gly
ENST00000427367.6:c.842A>G (BLNK)	ENSP00000391924.3:p.Asp281Gly
ENST00000442635.2:n.36-11543T>C (ZNF518A)
ENST00000563195.1:n.226-11889T>C (ZNF518A)
NM_001114094.1:c.1244A>G (BLNK)	NP_001107566.1:p.Asp415Gly
NM_001258440.1:c.1157A>G (BLNK)	NP_001245369.1:p.Asp386Gly
NM_001258441.1:c.1088A>G (BLNK)	NP_001245370.1:p.Asp363Gly
NM_001258442.1:c.842A>G (BLNK)	NP_001245371.1:p.Asp281Gly
NM_013314.3:c.1313A>G , LRG_21t1:c.1313A>G (BLNK)	NP_037446.1:p.Asp438Gly
NR_047680.1:n.1255A>G (BLNK)
NR_047681.1:n.1203A>G (BLNK)
NR_047682.1:n.1198A>G (BLNK)
NR_047683.1:n.1136A>G (BLNK)
XM_011539728.1:c.1313A>G (BLNK)	XP_011538030.1:p.Asp438Gly
NR_138482.1:n.430-11543T>C (ZNF518A)
XM_011539728.2:c.1313A>G (BLNK)	XP_011538030.1:p.Asp438Gly
XM_017016159.1:c.1244A>G (BLNK)	XP_016871648.1:p.Asp415Gly
NM_013314.4:c.1313A>G (BLNK) MANE Select	NP_037446.1:p.Asp438Gly
NM_001114094.2:c.1244A>G (BLNK)	NP_001107566.1:p.Asp415Gly
NM_001258440.2:c.1157A>G (BLNK)	NP_001245369.1:p.Asp386Gly
NM_001258441.2:c.1088A>G (BLNK)	NP_001245370.1:p.Asp363Gly
NM_001258442.2:c.842A>G (BLNK)	NP_001245371.1:p.Asp281Gly
NR_047680.2:n.1308A>G (BLNK)
NR_047681.2:n.1256A>G (BLNK)
NR_047682.2:n.1251A>G (BLNK)
NR_047683.2:n.1189A>G (BLNK)