Canonical Allele Identifier: CA348406116
Gene: PROC HGNC NCBI

Linked Data

dbSNP Id: rs1688694336

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.127428731C>A , CM000664.2:g.127428731C>A GRCh38
NC_000002.11:g.128186307C>A , CM000664.1:g.128186307C>A GRCh37
NC_000002.10:g.127902777C>A NCBI36
NG_016323.1:g.15312C>A , LRG_599:g.15312C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000234071.8:c.1171C>A MANE Select ENSP00000234071.4:p.Leu391Ile
ENST00000234071.7:c.1171C>A ENSP00000234071.3:p.Leu391Ile
ENST00000402125.2:c.495C>A
ENST00000409048.1:c.1273C>A ENSP00000386679.1:p.Leu425Ile
NM_000312.3:c.1171C>A , LRG_599t1:c.1171C>A NP_000303.1:p.Leu391Ile
XM_005263715.3:c.1354C>A XP_005263772.1:p.Leu452Ile
XM_005263716.3:c.1336C>A XP_005263773.1:p.Leu446Ile
XM_005263717.3:c.1234C>A XP_005263774.1:p.Leu412Ile
XR_923313.1:n.1332-467G>T
XM_005263717.4:c.1234C>A XP_005263774.1:p.Leu412Ile
XM_017004505.1:c.1414C>A XP_016859994.1:p.Leu472Ile
XM_024453002.1:c.1516C>A XP_024308770.1:p.Leu506Ile
XM_024453003.1:c.1456C>A XP_024308771.1:p.Leu486Ile
XM_024453004.1:c.1354C>A XP_024308772.1:p.Leu452Ile
XM_024453005.1:c.1336C>A XP_024308773.1:p.Leu446Ile
XM_024453006.1:c.1273C>A XP_024308774.1:p.Leu425Ile
XR_001739705.1:n.3607-467G>T
XR_923313.2:n.4043-467G>T
NM_000312.4:c.1171C>A MANE Select NP_000303.1:p.Leu391Ile
NM_001375602.1:c.1354C>A NP_001362531.1:p.Leu452Ile
NM_001375603.1:c.1336C>A NP_001362532.1:p.Leu446Ile
NM_001375604.1:c.1234C>A NP_001362533.1:p.Leu412Ile
NM_001375605.1:c.1273C>A NP_001362534.1:p.Leu425Ile
NM_001375606.1:c.1339C>A NP_001362535.1:p.Leu447Ile
NM_001375607.1:c.1357C>A NP_001362536.1:p.Leu453Ile
NM_001375608.1:c.1114C>A NP_001362537.1:p.Leu372Ile
NM_001375609.1:c.1147C>A NP_001362538.1:p.Leu383Ile
NM_001375610.1:c.1165C>A NP_001362539.1:p.Leu389Ile
NM_001375611.1:c.1171C>A NP_001362540.1:p.Leu391Ile
NM_001375613.1:c.1171C>A NP_001362542.1:p.Leu391Ile