Canonical Allele Identifier: CA348406105
Gene: PROC HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.127428728A>G , CM000664.2:g.127428728A>G GRCh38
NC_000002.11:g.128186304A>G , CM000664.1:g.128186304A>G GRCh37
NC_000002.10:g.127902774A>G NCBI36
NG_016323.1:g.15309A>G , LRG_599:g.15309A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000234071.8:c.1168A>G MANE Select ENSP00000234071.4:p.Ile390Val
ENST00000234071.7:c.1168A>G ENSP00000234071.3:p.Ile390Val
ENST00000402125.2:c.492A>G
ENST00000409048.1:c.1270A>G ENSP00000386679.1:p.Ile424Val
NM_000312.3:c.1168A>G , LRG_599t1:c.1168A>G NP_000303.1:p.Ile390Val
XM_005263715.3:c.1351A>G XP_005263772.1:p.Ile451Val
XM_005263716.3:c.1333A>G XP_005263773.1:p.Ile445Val
XM_005263717.3:c.1231A>G XP_005263774.1:p.Ile411Val
XR_923313.1:n.1332-464T>C
XM_005263717.4:c.1231A>G XP_005263774.1:p.Ile411Val
XM_017004505.1:c.1411A>G XP_016859994.1:p.Ile471Val
XM_024453002.1:c.1513A>G XP_024308770.1:p.Ile505Val
XM_024453003.1:c.1453A>G XP_024308771.1:p.Ile485Val
XM_024453004.1:c.1351A>G XP_024308772.1:p.Ile451Val
XM_024453005.1:c.1333A>G XP_024308773.1:p.Ile445Val
XM_024453006.1:c.1270A>G XP_024308774.1:p.Ile424Val
XR_001739705.1:n.3607-464T>C
XR_923313.2:n.4043-464T>C
NM_000312.4:c.1168A>G MANE Select NP_000303.1:p.Ile390Val
NM_001375602.1:c.1351A>G NP_001362531.1:p.Ile451Val
NM_001375603.1:c.1333A>G NP_001362532.1:p.Ile445Val
NM_001375604.1:c.1231A>G NP_001362533.1:p.Ile411Val
NM_001375605.1:c.1270A>G NP_001362534.1:p.Ile424Val
NM_001375606.1:c.1336A>G NP_001362535.1:p.Ile446Val
NM_001375607.1:c.1354A>G NP_001362536.1:p.Ile452Val
NM_001375608.1:c.1111A>G NP_001362537.1:p.Ile371Val
NM_001375609.1:c.1144A>G NP_001362538.1:p.Ile382Val
NM_001375610.1:c.1162A>G NP_001362539.1:p.Ile388Val
NM_001375611.1:c.1168A>G NP_001362540.1:p.Ile390Val
NM_001375613.1:c.1168A>G NP_001362542.1:p.Ile390Val