Canonical Allele Identifier: CA1790178958
Community Standard Title: NM_001242318.3(PDE7A):c.696+2316C=

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.65732478G= , CM000670.2:g.65732478G= GRCh38
NC_000008.10:g.66644713G= , CM000670.1:g.66644713G= GRCh37
NC_000008.9:g.66807267G= NCBI36
NG_029614.1:g.114257C=
NG_047112.1:g.93606G=

Transcript Alleles

HGVS Amino-acid Change
NM_001242318.3:c.696+2316C= (PDE7A) MANE Select NP_001229247.1:n.696+2316C=
ENST00000401827.8:c.696+2316C= (PDE7A) MANE Select ENSP00000385632.4:n.696+2316C=
NM_001242318.2:c.696+2316C= (PDE7A) NP_001229247.1:n.696+2316C=
NM_002603.3:c.618+2316C= (PDE7A) NP_002594.1:n.618+2316C=
NM_002603.4:c.618+2316C= (PDE7A) NP_002594.1:n.618+2316C=
ENST00000379419.8:c.618+2316C= (PDE7A) ENSP00000368730.4:n.618+2316C=
ENST00000396642.7:c.696+2316C= (PDE7A) ENSP00000379881.3:n.696+2316C=
ENST00000401827.7:c.696+2316C= (PDE7A) ENSP00000385632.3:n.696+2316C=
ENST00000518667.1:n.543-847C= (PDE7A)
ENST00000521247.6:c.483+12997G= (MTFR1) ENSP00000429253.2:n.483+12997G=
ENST00000527155.5:c.373+24467G= (MTFR1)
XM_006716484.2:c.933+24467G= (MTFR1) XP_006716547.2:n.933+24467G=
XM_011517540.1:c.618+2316C= (PDE7A) XP_011515842.1:n.618+2316C=
XM_011517540.3:c.618+2316C= (PDE7A) XP_011515842.1:n.618+2316C=
XM_011517626.1:c.933+24467G= (MTFR1) XP_011515928.1:n.933+24467G=
XM_011517626.2:c.933+24467G= (MTFR1) XP_011515928.1:n.933+24467G=
XM_011517627.1:c.933+24467G= (MTFR1) XP_011515929.1:n.933+24467G=
XM_011517627.3:c.933+24467G= (MTFR1) XP_011515929.1:n.933+24467G=
XM_011517628.1:c.894+24467G= (MTFR1) XP_011515930.1:n.894+24467G=
XM_011517628.2:c.894+24467G= (MTFR1) XP_011515930.1:n.894+24467G=
XM_017013538.2:c.594+2316C= (PDE7A) XP_016869027.1:n.594+2316C=