Canonical Allele Identifier: CA211732
Gene: PROC HGNC NCBI

Linked Data

ClinVar Variation Id: 161342
dbSNP Id: rs146922325

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.127426114C>T , CM000664.2:g.127426114C>T GRCh38
NC_000002.11:g.128183690C>T , CM000664.1:g.128183690C>T GRCh37
NC_000002.10:g.127900160C>T NCBI36
NG_016323.1:g.12695C>T , LRG_599:g.12695C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000234071.8:c.565C>T MANE Select ENSP00000234071.4:p.Arg189Trp
ENST00000234071.7:c.565C>T ENSP00000234071.3:p.Arg189Trp
ENST00000402125.2:c.121-2243C>T
ENST00000409048.1:c.667C>T ENSP00000386679.1:p.Arg223Trp
ENST00000442644.5:c.508C>T ENSP00000411241.1:p.Arg170Trp
ENST00000464089.1:n.151C>T
NM_000312.3:c.565C>T , LRG_599t1:c.565C>T NP_000303.1:p.Arg189Trp
XM_005263715.3:c.748C>T XP_005263772.1:p.Arg250Trp
XM_005263716.3:c.730C>T XP_005263773.1:p.Arg244Trp
XM_005263717.3:c.628C>T XP_005263774.1:p.Arg210Trp
XM_005263717.4:c.628C>T XP_005263774.1:p.Arg210Trp
XM_017004505.1:c.808C>T XP_016859994.1:p.Arg270Trp
XM_024453002.1:c.910C>T XP_024308770.1:p.Arg304Trp
XM_024453003.1:c.850C>T XP_024308771.1:p.Arg284Trp
XM_024453004.1:c.748C>T XP_024308772.1:p.Arg250Trp
XM_024453005.1:c.730C>T XP_024308773.1:p.Arg244Trp
XM_024453006.1:c.667C>T XP_024308774.1:p.Arg223Trp
XR_923313.2:n.4471G>A
NM_000312.4:c.565C>T MANE Select NP_000303.1:p.Arg189Trp
NM_001375602.1:c.748C>T NP_001362531.1:p.Arg250Trp
NM_001375603.1:c.730C>T NP_001362532.1:p.Arg244Trp
NM_001375604.1:c.628C>T NP_001362533.1:p.Arg210Trp
NM_001375605.1:c.667C>T NP_001362534.1:p.Arg223Trp
NM_001375606.1:c.733C>T NP_001362535.1:p.Arg245Trp
NM_001375607.1:c.751C>T NP_001362536.1:p.Arg251Trp
NM_001375608.1:c.508C>T NP_001362537.1:p.Arg170Trp
NM_001375609.1:c.541C>T NP_001362538.1:p.Arg181Trp
NM_001375610.1:c.559C>T NP_001362539.1:p.Arg187Trp
NM_001375611.1:c.565C>T NP_001362540.1:p.Arg189Trp
NM_001375613.1:c.565C>T NP_001362542.1:p.Arg189Trp