Canonical Allele Identifier: CA114410
Gene: PROC HGNC NCBI

Linked Data

ClinVar Variation Id: 668
ClinVar RCV Id: RCV000000703
dbSNP Id: rs121918152

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.127426207C>T , CM000664.2:g.127426207C>T GRCh38
NC_000002.11:g.128183783C>T , CM000664.1:g.128183783C>T GRCh37
NC_000002.10:g.127900253C>T NCBI36
NG_016323.1:g.12788C>T , LRG_599:g.12788C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000234071.8:c.658C>T MANE Select ENSP00000234071.4:p.Arg220Trp
ENST00000234071.7:c.658C>T ENSP00000234071.3:p.Arg220Trp
ENST00000402125.2:n.121-2150C>T
ENST00000409048.1:c.760C>T ENSP00000386679.1:p.Arg254Trp
ENST00000464089.1:n.244C>T
NM_000312.3:c.658C>T , LRG_599t1:c.658C>T NP_000303.1:p.Arg220Trp
XM_005263715.3:c.841C>T XP_005263772.1:p.Arg281Trp
XM_005263716.3:c.823C>T XP_005263773.1:p.Arg275Trp
XM_005263717.3:c.721C>T XP_005263774.1:p.Arg241Trp
XM_005263717.4:c.721C>T XP_005263774.1:p.Arg241Trp
XM_017004505.1:c.901C>T XP_016859994.1:p.Arg301Trp
XM_024453002.1:c.1003C>T XP_024308770.1:p.Arg335Trp
XM_024453003.1:c.943C>T XP_024308771.1:p.Arg315Trp
XM_024453004.1:c.841C>T XP_024308772.1:p.Arg281Trp
XM_024453005.1:c.823C>T XP_024308773.1:p.Arg275Trp
XM_024453006.1:c.760C>T XP_024308774.1:p.Arg254Trp
XR_923313.2:n.4378G>A
NM_000312.4:c.658C>T MANE Select NP_000303.1:p.Arg220Trp
NM_001375602.1:c.841C>T NP_001362531.1:p.Arg281Trp
NM_001375603.1:c.823C>T NP_001362532.1:p.Arg275Trp
NM_001375604.1:c.721C>T NP_001362533.1:p.Arg241Trp
NM_001375605.1:c.760C>T NP_001362534.1:p.Arg254Trp
NM_001375606.1:c.826C>T NP_001362535.1:p.Arg276Trp
NM_001375607.1:c.844C>T NP_001362536.1:p.Arg282Trp
NM_001375608.1:c.601C>T NP_001362537.1:p.Arg201Trp
NM_001375609.1:c.634C>T NP_001362538.1:p.Arg212Trp
NM_001375610.1:c.652C>T NP_001362539.1:p.Arg218Trp
NM_001375611.1:c.658C>T NP_001362540.1:p.Arg220Trp
NM_001375613.1:c.658C>T NP_001362542.1:p.Arg220Trp