Canonical Allele Identifier: CA348397690
Gene: PROC HGNC NCBI

Linked Data

ClinVar Variation Id: 1992373
ClinVar RCV Id: RCV002776556

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.127421306C>T , CM000664.2:g.127421306C>T GRCh38
NC_000002.11:g.128178882C>T , CM000664.1:g.128178882C>T GRCh37
NC_000002.10:g.127895352C>T NCBI36
NG_016323.1:g.7887C>T , LRG_599:g.7887C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000234071.8:c.94C>T MANE Select ENSP00000234071.4:p.Arg32Cys
ENST00000234071.7:c.94C>T ENSP00000234071.3:p.Arg32Cys
ENST00000409048.1:c.94C>T ENSP00000386679.1:p.Arg32Cys
ENST00000419985.5:c.71-12C>T ENSP00000392606.1:n.71-12C>T
ENST00000427769.5:c.94C>T ENSP00000406295.1:p.Arg32Cys
ENST00000429925.5:c.94C>T ENSP00000412697.1:p.Arg32Cys
ENST00000431364.1:c.71-12C>T ENSP00000391220.1:n.71-12C>T
ENST00000442644.5:c.94C>T ENSP00000411241.1:p.Arg32Cys
ENST00000474030.5:n.177C>T
NM_000312.3:c.94C>T , LRG_599t1:c.94C>T NP_000303.1:p.Arg32Cys
XM_005263715.3:c.277C>T XP_005263772.1:p.Arg93Cys
XM_005263716.3:c.157C>T XP_005263773.1:p.Arg53Cys
XM_005263717.3:c.157C>T XP_005263774.1:p.Arg53Cys
XM_005263717.4:c.157C>T XP_005263774.1:p.Arg53Cys
XM_017004505.1:c.349-12C>T XP_016859994.1:n.349-12C>T
XM_024453002.1:c.349-12C>T XP_024308770.1:n.349-12C>T
XM_024453003.1:c.277C>T XP_024308771.1:p.Arg93Cys
XM_024453004.1:c.277C>T XP_024308772.1:p.Arg93Cys
XM_024453005.1:c.157C>T XP_024308773.1:p.Arg53Cys
XM_024453006.1:c.94C>T XP_024308774.1:p.Arg32Cys
NM_000312.4:c.94C>T MANE Select NP_000303.1:p.Arg32Cys
NM_001375602.1:c.277C>T NP_001362531.1:p.Arg93Cys
NM_001375603.1:c.157C>T NP_001362532.1:p.Arg53Cys
NM_001375604.1:c.157C>T NP_001362533.1:p.Arg53Cys
NM_001375605.1:c.94C>T NP_001362534.1:p.Arg32Cys
NM_001375606.1:c.157C>T NP_001362535.1:p.Arg53Cys
NM_001375607.1:c.190-12C>T NP_001362536.1:n.190-12C>T
NM_001375608.1:c.94C>T NP_001362537.1:p.Arg32Cys
NM_001375609.1:c.70C>T NP_001362538.1:p.Arg24Cys
NM_001375610.1:c.88C>T NP_001362539.1:p.Arg30Cys
NM_001375611.1:c.94C>T NP_001362540.1:p.Arg32Cys
NM_001375613.1:c.94C>T NP_001362542.1:p.Arg32Cys