Canonical Allele Identifier: CA348397940
Gene: PROC HGNC NCBI

Linked Data

COSMIC: COSM354212

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.127421378G>C , CM000664.2:g.127421378G>C GRCh38
NC_000002.11:g.128178954G>C , CM000664.1:g.128178954G>C GRCh37
NC_000002.10:g.127895424G>C NCBI36
NG_016323.1:g.7959G>C , LRG_599:g.7959G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000234071.8:c.166G>C MANE Select ENSP00000234071.4:p.Glu56Gln
ENST00000234071.7:c.166G>C ENSP00000234071.3:p.Glu56Gln
ENST00000409048.1:c.166G>C ENSP00000386679.1:p.Glu56Gln
ENST00000419985.5:c.131G>C ENSP00000392606.1:p.Gly44Ala
ENST00000427769.5:c.166G>C ENSP00000406295.1:p.Glu56Gln
ENST00000429925.5:c.166G>C ENSP00000412697.1:p.Glu56Gln
ENST00000431364.1:c.131G>C ENSP00000391220.1:p.Gly44Ala
ENST00000442644.5:c.166G>C ENSP00000411241.1:p.Glu56Gln
ENST00000474030.5:n.249G>C
NM_000312.3:c.166G>C , LRG_599t1:c.166G>C NP_000303.1:p.Glu56Gln
XM_005263715.3:c.349G>C XP_005263772.1:p.Glu117Gln
XM_005263716.3:c.229G>C XP_005263773.1:p.Glu77Gln
XM_005263717.3:c.229G>C XP_005263774.1:p.Glu77Gln
XM_005263717.4:c.229G>C XP_005263774.1:p.Glu77Gln
XM_017004505.1:c.409G>C XP_016859994.1:p.Glu137Gln
XM_024453002.1:c.409G>C XP_024308770.1:p.Glu137Gln
XM_024453003.1:c.349G>C XP_024308771.1:p.Glu117Gln
XM_024453004.1:c.349G>C XP_024308772.1:p.Glu117Gln
XM_024453005.1:c.229G>C XP_024308773.1:p.Glu77Gln
XM_024453006.1:c.166G>C XP_024308774.1:p.Glu56Gln
NM_000312.4:c.166G>C MANE Select NP_000303.1:p.Glu56Gln
NM_001375602.1:c.349G>C NP_001362531.1:p.Glu117Gln
NM_001375603.1:c.229G>C NP_001362532.1:p.Glu77Gln
NM_001375604.1:c.229G>C NP_001362533.1:p.Glu77Gln
NM_001375605.1:c.166G>C NP_001362534.1:p.Glu56Gln
NM_001375606.1:c.229G>C NP_001362535.1:p.Glu77Gln
NM_001375607.1:c.250G>C NP_001362536.1:p.Glu84Gln
NM_001375608.1:c.166G>C NP_001362537.1:p.Glu56Gln
NM_001375609.1:c.142G>C NP_001362538.1:p.Glu48Gln
NM_001375610.1:c.160G>C NP_001362539.1:p.Glu54Gln
NM_001375611.1:c.166G>C NP_001362540.1:p.Glu56Gln
NM_001375613.1:c.166G>C NP_001362542.1:p.Glu56Gln