Canonical Allele Identifier: CA347804311
Gene: ZAP70 HGNC NCBI
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.97737826A>C , CM000664.2:g.97737826A>C GRCh38
NC_000002.11:g.98354289A>C , CM000664.1:g.98354289A>C GRCh37
NC_000002.10:g.97720721A>C NCBI36
NG_007727.1:g.29259A>C , LRG_126:g.29259A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000698508.1:c.1552A>C ENSP00000513759.1:p.Ser518Arg
ENST00000698509.1:n.1692A>C
ENST00000264972.10:c.1552A>C MANE Select ENSP00000264972.5:p.Ser518Arg
ENST00000264972.9:c.1552A>C ENSP00000264972.5:p.Ser518Arg
ENST00000451498.2:c.631A>C ENSP00000400475.2:p.Ser211Arg
ENST00000463643.5:n.1413A>C
ENST00000487283.5:n.2604A>C
ENST00000489250.1:n.5A>C
ENST00000495754.1:n.490A>C
NM_001079.3:c.1552A>C , LRG_126t1:c.1552A>C NP_001070.2:p.Ser518Arg
NM_207519.1:c.631A>C NP_997402.1:p.Ser211Arg
XM_005264015.3:c.1534A>C XP_005264072.1:p.Ser512Arg
XM_006712728.2:c.1552A>C XP_006712791.1:p.Ser518Arg
XM_011511783.1:c.1552A>C XP_011510085.1:p.Ser518Arg
XR_923018.1:n.1754A>C
XR_923019.1:n.1754A>C
XR_923020.1:n.1754A>C
XM_017004867.1:c.1921A>C XP_016860356.1:p.Ser641Arg
XM_017004868.1:c.1903A>C XP_016860357.1:p.Ser635Arg
XM_017004869.1:c.1921A>C XP_016860358.1:p.Ser641Arg
XM_017004870.1:c.1921A>C XP_016860359.1:p.Ser641Arg
XR_001738925.1:n.3160A>C
XR_001738926.1:n.3160A>C
XR_001738927.1:n.3160A>C
NM_001079.4:c.1552A>C MANE Select NP_001070.2:p.Ser518Arg
NM_001378594.1:c.1552A>C NP_001365523.1:p.Ser518Arg
NM_207519.2:c.631A>C NP_997402.1:p.Ser211Arg