Canonical Allele Identifier: CA348406293
Gene: PROC HGNC NCBI

Linked Data

ClinVar Variation Id: 546154
ClinVar RCV Id: RCV000657992
dbSNP Id: rs1553425459

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.127428776A>G , CM000664.2:g.127428776A>G GRCh38
NC_000002.11:g.128186352A>G , CM000664.1:g.128186352A>G GRCh37
NC_000002.10:g.127902822A>G NCBI36
NG_016323.1:g.15357A>G , LRG_599:g.15357A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000234071.8:c.1216A>G MANE Select ENSP00000234071.4:p.Met406Val
ENST00000234071.7:c.1216A>G ENSP00000234071.3:p.Met406Val
ENST00000402125.2:c.540A>G
ENST00000409048.1:c.1318A>G ENSP00000386679.1:p.Met440Val
NM_000312.3:c.1216A>G , LRG_599t1:c.1216A>G NP_000303.1:p.Met406Val
XM_005263715.3:c.1399A>G XP_005263772.1:p.Met467Val
XM_005263716.3:c.1381A>G XP_005263773.1:p.Met461Val
XM_005263717.3:c.1279A>G XP_005263774.1:p.Met427Val
XR_923313.1:n.1332-512T>C
XM_005263717.4:c.1279A>G XP_005263774.1:p.Met427Val
XM_017004505.1:c.1459A>G XP_016859994.1:p.Met487Val
XM_024453002.1:c.1561A>G XP_024308770.1:p.Met521Val
XM_024453003.1:c.1501A>G XP_024308771.1:p.Met501Val
XM_024453004.1:c.1399A>G XP_024308772.1:p.Met467Val
XM_024453005.1:c.1381A>G XP_024308773.1:p.Met461Val
XM_024453006.1:c.1318A>G XP_024308774.1:p.Met440Val
XR_001739705.1:n.3607-512T>C
XR_923313.2:n.4043-512T>C
NM_000312.4:c.1216A>G MANE Select NP_000303.1:p.Met406Val
NM_001375602.1:c.1399A>G NP_001362531.1:p.Met467Val
NM_001375603.1:c.1381A>G NP_001362532.1:p.Met461Val
NM_001375604.1:c.1279A>G NP_001362533.1:p.Met427Val
NM_001375605.1:c.1318A>G NP_001362534.1:p.Met440Val
NM_001375606.1:c.1384A>G NP_001362535.1:p.Met462Val
NM_001375607.1:c.1402A>G NP_001362536.1:p.Met468Val
NM_001375608.1:c.1159A>G NP_001362537.1:p.Met387Val
NM_001375609.1:c.1192A>G NP_001362538.1:p.Met398Val
NM_001375610.1:c.1210A>G NP_001362539.1:p.Met404Val
NM_001375611.1:c.1216A>G NP_001362540.1:p.Met406Val
NM_001375613.1:c.1216A>G NP_001362542.1:p.Met406Val