Canonical Allele Identifier: CA348406098
Gene: PROC HGNC NCBI
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.127428726G>T , CM000664.2:g.127428726G>T GRCh38
NC_000002.11:g.128186302G>T , CM000664.1:g.128186302G>T GRCh37
NC_000002.10:g.127902772G>T NCBI36
NG_016323.1:g.15307G>T , LRG_599:g.15307G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000234071.8:c.1166G>T MANE Select ENSP00000234071.4:p.Gly389Val
ENST00000234071.7:c.1166G>T ENSP00000234071.3:p.Gly389Val
ENST00000402125.2:c.490G>T
ENST00000409048.1:c.1268G>T ENSP00000386679.1:p.Gly423Val
NM_000312.3:c.1166G>T , LRG_599t1:c.1166G>T NP_000303.1:p.Gly389Val
XM_005263715.3:c.1349G>T XP_005263772.1:p.Gly450Val
XM_005263716.3:c.1331G>T XP_005263773.1:p.Gly444Val
XM_005263717.3:c.1229G>T XP_005263774.1:p.Gly410Val
XR_923313.1:n.1332-462C>A
XM_005263717.4:c.1229G>T XP_005263774.1:p.Gly410Val
XM_017004505.1:c.1409G>T XP_016859994.1:p.Gly470Val
XM_024453002.1:c.1511G>T XP_024308770.1:p.Gly504Val
XM_024453003.1:c.1451G>T XP_024308771.1:p.Gly484Val
XM_024453004.1:c.1349G>T XP_024308772.1:p.Gly450Val
XM_024453005.1:c.1331G>T XP_024308773.1:p.Gly444Val
XM_024453006.1:c.1268G>T XP_024308774.1:p.Gly423Val
XR_001739705.1:n.3607-462C>A
XR_923313.2:n.4043-462C>A
NM_000312.4:c.1166G>T MANE Select NP_000303.1:p.Gly389Val
NM_001375602.1:c.1349G>T NP_001362531.1:p.Gly450Val
NM_001375603.1:c.1331G>T NP_001362532.1:p.Gly444Val
NM_001375604.1:c.1229G>T NP_001362533.1:p.Gly410Val
NM_001375605.1:c.1268G>T NP_001362534.1:p.Gly423Val
NM_001375606.1:c.1334G>T NP_001362535.1:p.Gly445Val
NM_001375607.1:c.1352G>T NP_001362536.1:p.Gly451Val
NM_001375608.1:c.1109G>T NP_001362537.1:p.Gly370Val
NM_001375609.1:c.1142G>T NP_001362538.1:p.Gly381Val
NM_001375610.1:c.1160G>T NP_001362539.1:p.Gly387Val
NM_001375611.1:c.1166G>T NP_001362540.1:p.Gly389Val
NM_001375613.1:c.1166G>T NP_001362542.1:p.Gly389Val