Canonical Allele Identifier: CA347805568
Gene: ZAP70 HGNC NCBI
MyVariant.info:
Revel Score:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.97738085A>C , CM000664.2:g.97738085A>C GRCh38
NC_000002.11:g.98354548A>C , CM000664.1:g.98354548A>C GRCh37
NC_000002.10:g.97720980A>C NCBI36
NG_007727.1:g.29518A>C , LRG_126:g.29518A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000698508.1:c.1714A>C ENSP00000513759.1:p.Met572Leu
ENST00000698509.1:n.1854A>C
ENST00000264972.10:c.1714A>C MANE Select ENSP00000264972.5:p.Met572Leu
ENST00000264972.9:c.1714A>C ENSP00000264972.5:p.Met572Leu
ENST00000451498.2:c.793A>C ENSP00000400475.2:p.Met265Leu
ENST00000463643.5:n.1575A>C
ENST00000487283.5:n.2766A>C
ENST00000489250.1:n.167A>C
NM_001079.3:c.1714A>C , LRG_126t1:c.1714A>C NP_001070.2:p.Met572Leu
NM_207519.1:c.793A>C NP_997402.1:p.Met265Leu
XM_005264015.3:c.1696A>C XP_005264072.1:p.Met566Leu
XM_006712728.2:c.1714A>C XP_006712791.1:p.Met572Leu
XM_011511783.1:c.1714A>C XP_011510085.1:p.Met572Leu
XR_923018.1:n.1916A>C
XR_923019.1:n.1916A>C
XR_923020.1:n.1916A>C
XM_017004867.1:c.2083A>C XP_016860356.1:p.Met695Leu
XM_017004868.1:c.2065A>C XP_016860357.1:p.Met689Leu
XM_017004869.1:c.2083A>C XP_016860358.1:p.Met695Leu
XM_017004870.1:c.2083A>C XP_016860359.1:p.Met695Leu
XR_001738925.1:n.3322A>C
XR_001738926.1:n.3322A>C
XR_001738927.1:n.3322A>C
NM_001079.4:c.1714A>C MANE Select NP_001070.2:p.Met572Leu
NM_001378594.1:c.1714A>C NP_001365523.1:p.Met572Leu
NM_207519.2:c.793A>C NP_997402.1:p.Met265Leu