Canonical Allele Identifier: CA1698338122
Community Standard Title: NM_001191057.4(PDE1C):c.750+529G=
Gene: PDE1C HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.31864413C= , CM000669.2:g.31864413C= GRCh38
NC_000007.13:g.31904027C= , CM000669.1:g.31904027C= GRCh37
NC_000007.12:g.31870552C= NCBI36
NG_051183.1:g.568812G=

Transcript Alleles

HGVS Amino-acid Change
NM_001191057.4:c.750+529G= MANE Select NP_001177986.1:n.750+529G=
ENST00000396191.6:c.750+529G= MANE Select ENSP00000379494.1:n.750+529G=
NM_001191056.2:c.750+529G= NP_001177985.1:n.750+529G=
NM_001191056.3:c.750+529G= NP_001177985.1:n.750+529G=
NM_001191057.2:c.750+529G= NP_001177986.1:n.750+529G=
NM_001191057.3:c.750+529G= NP_001177986.1:n.750+529G=
NM_001191058.2:c.930+529G= NP_001177987.2:n.930+529G=
NM_001191058.3:c.930+529G= NP_001177987.2:n.930+529G=
NM_001191058.4:c.930+529G= NP_001177987.2:n.930+529G=
NM_001191059.2:c.750+529G= NP_001177988.1:n.750+529G=
NM_001191059.3:c.750+529G= NP_001177988.1:n.750+529G=
NM_001191059.4:c.750+529G= NP_001177988.1:n.750+529G=
NM_001322055.1:c.750+529G= NP_001308984.1:n.750+529G=
NM_001322055.2:c.750+529G= NP_001308984.1:n.750+529G=
NM_001322056.1:c.750+529G= NP_001308985.1:n.750+529G=
NM_001322056.2:c.750+529G= NP_001308985.1:n.750+529G=
NM_001322057.1:c.750+529G= NP_001308986.1:n.750+529G=
NM_001322057.2:c.750+529G= NP_001308986.1:n.750+529G=
NM_001322058.1:c.930+529G= NP_001308987.1:n.930+529G=
NM_001322058.2:c.930+529G= NP_001308987.1:n.930+529G=
NM_001322059.1:c.1155+529G= NP_001308988.1:n.1155+529G=
NM_001322059.2:c.1155+529G= NP_001308988.1:n.1155+529G=
NM_005020.3:c.750+529G= NP_005011.1:n.750+529G=
NM_005020.4:c.750+529G= NP_005011.1:n.750+529G=
NM_005020.5:c.750+529G= NP_005011.1:n.750+529G=
ENST00000321453.11:c.750+529G= ENSP00000318105.7:n.750+529G=
ENST00000321453.12:c.750+529G= ENSP00000318105.7:n.750+529G=
ENST00000396182.6:c.750+529G= ENSP00000379485.2:n.750+529G=
ENST00000396184.7:c.750+529G= ENSP00000379487.3:n.750+529G=
ENST00000396191.5:c.750+529G= ENSP00000379494.1:n.750+529G=
ENST00000396193.5:c.930+529G= ENSP00000379496.1:n.930+529G=
XM_005249768.3:c.930+529G= XP_005249825.2:n.930+529G=
XM_011515410.1:c.930+529G= XP_011513712.1:n.930+529G=
XM_011515411.1:c.930+529G= XP_011513713.1:n.930+529G=
XM_011515412.1:c.750+529G= XP_011513714.1:n.750+529G=
XM_011515413.1:c.750+529G= XP_011513715.1:n.750+529G=
XM_011515414.1:c.930+529G= XP_011513716.1:n.930+529G=
XM_017012264.1:c.1035+529G= XP_016867753.1:n.1035+529G=
XM_017012265.1:c.870+529G= XP_016867754.1:n.870+529G=
XM_017012266.1:c.1035+529G= XP_016867755.1:n.1035+529G=
XM_017012267.1:c.750+529G= XP_016867756.1:n.750+529G=
XR_001744802.1:n.1050+529G=
XR_001744803.1:n.1050+529G=
XR_001744804.1:n.1050+529G=
XR_001744805.1:n.1050+529G=
XR_001744806.1:n.1211+529G=
XR_002956451.1:n.1211+529G=