Canonical Allele Identifier: CA114412
Gene: PROC HGNC NCBI
MyVariant.info:
Revel Score:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.127426208G>A , CM000664.2:g.127426208G>A GRCh38
NC_000002.11:g.128183784G>A , CM000664.1:g.128183784G>A GRCh37
NC_000002.10:g.127900254G>A NCBI36
NG_016323.1:g.12789G>A , LRG_599:g.12789G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000234071.8:c.659G>A MANE Select ENSP00000234071.4:p.Arg220Gln
ENST00000234071.7:c.659G>A ENSP00000234071.3:p.Arg220Gln
ENST00000402125.2:c.121-2149G>A
ENST00000409048.1:c.761G>A ENSP00000386679.1:p.Arg254Gln
ENST00000464089.1:n.245G>A
NM_000312.3:c.659G>A , LRG_599t1:c.659G>A NP_000303.1:p.Arg220Gln
XM_005263715.3:c.842G>A XP_005263772.1:p.Arg281Gln
XM_005263716.3:c.824G>A XP_005263773.1:p.Arg275Gln
XM_005263717.3:c.722G>A XP_005263774.1:p.Arg241Gln
XM_005263717.4:c.722G>A XP_005263774.1:p.Arg241Gln
XM_017004505.1:c.902G>A XP_016859994.1:p.Arg301Gln
XM_024453002.1:c.1004G>A XP_024308770.1:p.Arg335Gln
XM_024453003.1:c.944G>A XP_024308771.1:p.Arg315Gln
XM_024453004.1:c.842G>A XP_024308772.1:p.Arg281Gln
XM_024453005.1:c.824G>A XP_024308773.1:p.Arg275Gln
XM_024453006.1:c.761G>A XP_024308774.1:p.Arg254Gln
XR_923313.2:n.4377C>T
NM_000312.4:c.659G>A MANE Select NP_000303.1:p.Arg220Gln
NM_001375602.1:c.842G>A NP_001362531.1:p.Arg281Gln
NM_001375603.1:c.824G>A NP_001362532.1:p.Arg275Gln
NM_001375604.1:c.722G>A NP_001362533.1:p.Arg241Gln
NM_001375605.1:c.761G>A NP_001362534.1:p.Arg254Gln
NM_001375606.1:c.827G>A NP_001362535.1:p.Arg276Gln
NM_001375607.1:c.845G>A NP_001362536.1:p.Arg282Gln
NM_001375608.1:c.602G>A NP_001362537.1:p.Arg201Gln
NM_001375609.1:c.635G>A NP_001362538.1:p.Arg212Gln
NM_001375610.1:c.653G>A NP_001362539.1:p.Arg218Gln
NM_001375611.1:c.659G>A NP_001362540.1:p.Arg220Gln
NM_001375613.1:c.659G>A NP_001362542.1:p.Arg220Gln