Canonical Allele Identifier: CA348406115
Gene: PROC HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.127428730C>G , CM000664.2:g.127428730C>G GRCh38
NC_000002.11:g.128186306C>G , CM000664.1:g.128186306C>G GRCh37
NC_000002.10:g.127902776C>G NCBI36
NG_016323.1:g.15311C>G , LRG_599:g.15311C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000234071.8:c.1170C>G MANE Select ENSP00000234071.4:p.Ile390Met
ENST00000234071.7:c.1170C>G ENSP00000234071.3:p.Ile390Met
ENST00000402125.2:c.494C>G
ENST00000409048.1:c.1272C>G ENSP00000386679.1:p.Ile424Met
NM_000312.3:c.1170C>G , LRG_599t1:c.1170C>G NP_000303.1:p.Ile390Met
XM_005263715.3:c.1353C>G XP_005263772.1:p.Ile451Met
XM_005263716.3:c.1335C>G XP_005263773.1:p.Ile445Met
XM_005263717.3:c.1233C>G XP_005263774.1:p.Ile411Met
XR_923313.1:n.1332-466G>C
XM_005263717.4:c.1233C>G XP_005263774.1:p.Ile411Met
XM_017004505.1:c.1413C>G XP_016859994.1:p.Ile471Met
XM_024453002.1:c.1515C>G XP_024308770.1:p.Ile505Met
XM_024453003.1:c.1455C>G XP_024308771.1:p.Ile485Met
XM_024453004.1:c.1353C>G XP_024308772.1:p.Ile451Met
XM_024453005.1:c.1335C>G XP_024308773.1:p.Ile445Met
XM_024453006.1:c.1272C>G XP_024308774.1:p.Ile424Met
XR_001739705.1:n.3607-466G>C
XR_923313.2:n.4043-466G>C
NM_000312.4:c.1170C>G MANE Select NP_000303.1:p.Ile390Met
NM_001375602.1:c.1353C>G NP_001362531.1:p.Ile451Met
NM_001375603.1:c.1335C>G NP_001362532.1:p.Ile445Met
NM_001375604.1:c.1233C>G NP_001362533.1:p.Ile411Met
NM_001375605.1:c.1272C>G NP_001362534.1:p.Ile424Met
NM_001375606.1:c.1338C>G NP_001362535.1:p.Ile446Met
NM_001375607.1:c.1356C>G NP_001362536.1:p.Ile452Met
NM_001375608.1:c.1113C>G NP_001362537.1:p.Ile371Met
NM_001375609.1:c.1146C>G NP_001362538.1:p.Ile382Met
NM_001375610.1:c.1164C>G NP_001362539.1:p.Ile388Met
NM_001375611.1:c.1170C>G NP_001362540.1:p.Ile390Met
NM_001375613.1:c.1170C>G NP_001362542.1:p.Ile390Met