Canonical Allele Identifier: CA4210817
Gene: PDE1C HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.31815964G>A , CM000669.2:g.31815964G>A GRCh38
NC_000007.13:g.31855578G>A , CM000669.1:g.31855578G>A GRCh37
NC_000007.12:g.31822103G>A NCBI36
NG_051183.1:g.617261C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001191057.4:c.1773C>T MANE Select NP_001177986.1:p.Asn591=
ENST00000396191.6:c.1773C>T MANE Select ENSP00000379494.1:p.Asn591=
NM_001191056.2:c.1773C>T NP_001177985.1:p.Asn591=
NM_001191056.3:c.1773C>T NP_001177985.1:p.Asn591=
NM_001191057.2:c.1773C>T NP_001177986.1:p.Asn591=
NM_001191057.3:c.1773C>T NP_001177986.1:p.Asn591=
NM_001191058.2:c.1953C>T NP_001177987.2:p.Asn651=
NM_001191058.3:c.1953C>T NP_001177987.2:p.Asn651=
NM_001191058.4:c.1953C>T NP_001177987.2:p.Asn651=
NM_001191059.2:c.1773C>T NP_001177988.1:p.Asn591=
NM_001191059.3:c.1773C>T NP_001177988.1:p.Asn591=
NM_001191059.4:c.1773C>T NP_001177988.1:p.Asn591=
NM_001322055.1:c.1773C>T NP_001308984.1:p.Asn591=
NM_001322055.2:c.1773C>T NP_001308984.1:p.Asn591=
NM_001322056.1:c.1773C>T NP_001308985.1:p.Asn591=
NM_001322056.2:c.1773C>T NP_001308985.1:p.Asn591=
NM_001322057.1:c.1773C>T NP_001308986.1:p.Asn591=
NM_001322057.2:c.1773C>T NP_001308986.1:p.Asn591=
NM_001322058.1:c.1953C>T NP_001308987.1:p.Asn651=
NM_001322058.2:c.1953C>T NP_001308987.1:p.Asn651=
NM_001322059.1:c.2178C>T NP_001308988.1:p.Asn726=
NM_001322059.2:c.2178C>T NP_001308988.1:p.Asn726=
NM_005020.3:c.1773C>T NP_005011.1:p.Asn591=
NM_005020.4:c.1773C>T NP_005011.1:p.Asn591=
NM_005020.5:c.1773C>T NP_005011.1:p.Asn591=
ENST00000321453.11:c.1773C>T ENSP00000318105.7:p.Asn591=
ENST00000321453.12:c.1773C>T ENSP00000318105.7:p.Asn591=
ENST00000396182.6:c.1773C>T ENSP00000379485.2:p.Asn591=
ENST00000396184.7:c.1773C>T ENSP00000379487.3:p.Asn591=
ENST00000396191.5:c.1773C>T ENSP00000379494.1:p.Asn591=
ENST00000396193.5:c.1953C>T ENSP00000379496.1:p.Asn651=
ENST00000479980.1:n.580C>T
XM_005249768.3:c.1953C>T XP_005249825.2:p.Asn651=
XM_011515410.1:c.1953C>T XP_011513712.1:p.Asn651=
XM_011515411.1:c.1953C>T XP_011513713.1:p.Asn651=
XM_011515412.1:c.1773C>T XP_011513714.1:p.Asn591=
XM_011515413.1:c.1773C>T XP_011513715.1:p.Asn591=
XM_011515414.1:c.*973C>T XP_011513716.1:n.*973C>T
XM_017012264.1:c.2058C>T XP_016867753.1:p.Asn686=
XM_017012265.1:c.1893C>T XP_016867754.1:p.Asn631=
XM_017012266.1:c.2058C>T XP_016867755.1:p.Asn686=
XM_017012267.1:c.1773C>T XP_016867756.1:p.Asn591=
XR_001744802.1:n.2073C>T
XR_001744803.1:n.2073C>T
XR_001744804.1:n.3091C>T
XR_001744805.1:n.3091C>T
XR_001744806.1:n.2463C>T
XR_002956451.1:n.4776C>T