Canonical Allele Identifier: CA114408
Gene: PROC HGNC NCBI

Linked Data

ClinVar Variation Id: 667
ClinVar RCV Id: RCV000000702
dbSNP Id: rs121918151

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.127428426C>T , CM000664.2:g.127428426C>T GRCh38
NC_000002.11:g.128186002C>T , CM000664.1:g.128186002C>T GRCh37
NC_000002.10:g.127902472C>T NCBI36
NG_016323.1:g.15007C>T , LRG_599:g.15007C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000234071.8:c.866C>T MANE Select ENSP00000234071.4:p.Pro289Leu
ENST00000234071.7:c.866C>T ENSP00000234071.3:p.Pro289Leu
ENST00000402125.2:c.190C>T
ENST00000409048.1:c.968C>T ENSP00000386679.1:p.Pro323Leu
NM_000312.3:c.866C>T , LRG_599t1:c.866C>T NP_000303.1:p.Pro289Leu
XM_005263715.3:c.1049C>T XP_005263772.1:p.Pro350Leu
XM_005263716.3:c.1031C>T XP_005263773.1:p.Pro344Leu
XM_005263717.3:c.929C>T XP_005263774.1:p.Pro310Leu
XR_923313.1:n.1332-162G>A
XM_005263717.4:c.929C>T XP_005263774.1:p.Pro310Leu
XM_017004505.1:c.1109C>T XP_016859994.1:p.Pro370Leu
XM_024453002.1:c.1211C>T XP_024308770.1:p.Pro404Leu
XM_024453003.1:c.1151C>T XP_024308771.1:p.Pro384Leu
XM_024453004.1:c.1049C>T XP_024308772.1:p.Pro350Leu
XM_024453005.1:c.1031C>T XP_024308773.1:p.Pro344Leu
XM_024453006.1:c.968C>T XP_024308774.1:p.Pro323Leu
XR_001739705.1:n.3607-162G>A
XR_923313.2:n.4043-162G>A
NM_000312.4:c.866C>T MANE Select NP_000303.1:p.Pro289Leu
NM_001375602.1:c.1049C>T NP_001362531.1:p.Pro350Leu
NM_001375603.1:c.1031C>T NP_001362532.1:p.Pro344Leu
NM_001375604.1:c.929C>T NP_001362533.1:p.Pro310Leu
NM_001375605.1:c.968C>T NP_001362534.1:p.Pro323Leu
NM_001375606.1:c.1034C>T NP_001362535.1:p.Pro345Leu
NM_001375607.1:c.1052C>T NP_001362536.1:p.Pro351Leu
NM_001375608.1:c.809C>T NP_001362537.1:p.Pro270Leu
NM_001375609.1:c.842C>T NP_001362538.1:p.Pro281Leu
NM_001375610.1:c.860C>T NP_001362539.1:p.Pro287Leu
NM_001375611.1:c.866C>T NP_001362540.1:p.Pro289Leu
NM_001375613.1:c.866C>T NP_001362542.1:p.Pro289Leu