Canonical Allele Identifier: CA348401661
Gene: PROC HGNC NCBI
MyVariant.info:
Revel Score:

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000234071.8:c.659G>C MANE Select ENSP00000234071.4:p.Arg220Pro
ENST00000234071.7:c.659G>C ENSP00000234071.3:p.Arg220Pro
ENST00000402125.2:c.121-2149G>C
ENST00000409048.1:c.761G>C ENSP00000386679.1:p.Arg254Pro
ENST00000464089.1:n.245G>C
NM_000312.3:c.659G>C , LRG_599t1:c.659G>C NP_000303.1:p.Arg220Pro
XM_005263715.3:c.842G>C XP_005263772.1:p.Arg281Pro
XM_005263716.3:c.824G>C XP_005263773.1:p.Arg275Pro
XM_005263717.3:c.722G>C XP_005263774.1:p.Arg241Pro
XM_005263717.4:c.722G>C XP_005263774.1:p.Arg241Pro
XM_017004505.1:c.902G>C XP_016859994.1:p.Arg301Pro
XM_024453002.1:c.1004G>C XP_024308770.1:p.Arg335Pro
XM_024453003.1:c.944G>C XP_024308771.1:p.Arg315Pro
XM_024453004.1:c.842G>C XP_024308772.1:p.Arg281Pro
XM_024453005.1:c.824G>C XP_024308773.1:p.Arg275Pro
XM_024453006.1:c.761G>C XP_024308774.1:p.Arg254Pro
XR_923313.2:n.4377C>G
NM_000312.4:c.659G>C MANE Select NP_000303.1:p.Arg220Pro
NM_001375602.1:c.842G>C NP_001362531.1:p.Arg281Pro
NM_001375603.1:c.824G>C NP_001362532.1:p.Arg275Pro
NM_001375604.1:c.722G>C NP_001362533.1:p.Arg241Pro
NM_001375605.1:c.761G>C NP_001362534.1:p.Arg254Pro
NM_001375606.1:c.827G>C NP_001362535.1:p.Arg276Pro
NM_001375607.1:c.845G>C NP_001362536.1:p.Arg282Pro
NM_001375608.1:c.602G>C NP_001362537.1:p.Arg201Pro
NM_001375609.1:c.635G>C NP_001362538.1:p.Arg212Pro
NM_001375610.1:c.653G>C NP_001362539.1:p.Arg218Pro
NM_001375611.1:c.659G>C NP_001362540.1:p.Arg220Pro
NM_001375613.1:c.659G>C NP_001362542.1:p.Arg220Pro