Canonical Allele Identifier: CA156177085

Gene: PDE1C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.31815806A>G , CM000669.2:g.31815806A>G	GRCh38
NC_000007.13:g.31855420A>G , CM000669.1:g.31855420A>G	GRCh37
NC_000007.12:g.31821945A>G	NCBI36
NG_051183.1:g.617419T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001191057.4:c.1813+118T>C MANE Select	NP_001177986.1:n.1813+118T>C
ENST00000396191.6:c.1813+118T>C MANE Select	ENSP00000379494.1:n.1813+118T>C
NM_001191056.2:c.1813+118T>C	NP_001177985.1:n.1813+118T>C
NM_001191056.3:c.1813+118T>C	NP_001177985.1:n.1813+118T>C
NM_001191057.2:c.1813+118T>C	NP_001177986.1:n.1813+118T>C
NM_001191057.3:c.1813+118T>C	NP_001177986.1:n.1813+118T>C
NM_001191058.2:c.1993+118T>C	NP_001177987.2:n.1993+118T>C
NM_001191058.3:c.1993+118T>C	NP_001177987.2:n.1993+118T>C
NM_001191058.4:c.1993+118T>C	NP_001177987.2:n.1993+118T>C
NM_001191059.2:c.1813+118T>C	NP_001177988.1:n.1813+118T>C
NM_001191059.3:c.1813+118T>C	NP_001177988.1:n.1813+118T>C
NM_001191059.4:c.1813+118T>C	NP_001177988.1:n.1813+118T>C
NM_001322055.1:c.1813+118T>C	NP_001308984.1:n.1813+118T>C
NM_001322055.2:c.1813+118T>C	NP_001308984.1:n.1813+118T>C
NM_001322056.1:c.1813+118T>C	NP_001308985.1:n.1813+118T>C
NM_001322056.2:c.1813+118T>C	NP_001308985.1:n.1813+118T>C
NM_001322057.1:c.1813+118T>C	NP_001308986.1:n.1813+118T>C
NM_001322057.2:c.1813+118T>C	NP_001308986.1:n.1813+118T>C
NM_001322058.1:c.1993+118T>C	NP_001308987.1:n.1993+118T>C
NM_001322058.2:c.1993+118T>C	NP_001308987.1:n.1993+118T>C
NM_001322059.1:c.2218+118T>C	NP_001308988.1:n.2218+118T>C
NM_001322059.2:c.2218+118T>C	NP_001308988.1:n.2218+118T>C
NM_005020.3:c.1813+118T>C	NP_005011.1:n.1813+118T>C
NM_005020.4:c.1813+118T>C	NP_005011.1:n.1813+118T>C
NM_005020.5:c.1813+118T>C	NP_005011.1:n.1813+118T>C
ENST00000321453.11:c.1813+118T>C	ENSP00000318105.7:n.1813+118T>C
ENST00000321453.12:c.1813+118T>C	ENSP00000318105.7:n.1813+118T>C
ENST00000396182.6:c.1813+118T>C	ENSP00000379485.2:n.1813+118T>C
ENST00000396184.7:c.1813+118T>C	ENSP00000379487.3:n.1813+118T>C
ENST00000396191.5:c.1813+118T>C	ENSP00000379494.1:n.1813+118T>C
ENST00000396193.5:c.1993+118T>C	ENSP00000379496.1:n.1993+118T>C
ENST00000479980.1:n.620+118T>C
XM_005249768.3:c.1993+118T>C	XP_005249825.2:n.1993+118T>C
XM_011515410.1:c.1993+118T>C	XP_011513712.1:n.1993+118T>C
XM_011515411.1:c.1993+118T>C	XP_011513713.1:n.1993+118T>C
XM_011515412.1:c.1813+118T>C	XP_011513714.1:n.1813+118T>C
XM_011515413.1:c.1813+118T>C	XP_011513715.1:n.1813+118T>C
XM_011515414.1:c.*1013+118T>C	XP_011513716.1:n.*1013+118T>C
XM_017012264.1:c.2098+118T>C	XP_016867753.1:n.2098+118T>C
XM_017012265.1:c.1933+118T>C	XP_016867754.1:n.1933+118T>C
XM_017012266.1:c.2098+118T>C	XP_016867755.1:n.2098+118T>C
XM_017012267.1:c.1813+118T>C	XP_016867756.1:n.1813+118T>C
XR_001744802.1:n.2113+118T>C
XR_001744803.1:n.2113+118T>C
XR_001744804.1:n.3131+118T>C
XR_001744805.1:n.3131+118T>C
XR_001744806.1:n.2503+118T>C
XR_002956451.1:n.4816+118T>C