Canonical Allele Identifier: CA348405643
Gene: PROC HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.127428609A>T , CM000664.2:g.127428609A>T GRCh38
NC_000002.11:g.128186185A>T , CM000664.1:g.128186185A>T GRCh37
NC_000002.10:g.127902655A>T NCBI36
NG_016323.1:g.15190A>T , LRG_599:g.15190A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000234071.8:c.1049A>T MANE Select ENSP00000234071.4:p.Lys350Met
ENST00000234071.7:c.1049A>T ENSP00000234071.3:p.Lys350Met
ENST00000402125.2:c.373A>T
ENST00000409048.1:c.1151A>T ENSP00000386679.1:p.Lys384Met
NM_000312.3:c.1049A>T , LRG_599t1:c.1049A>T NP_000303.1:p.Lys350Met
XM_005263715.3:c.1232A>T XP_005263772.1:p.Lys411Met
XM_005263716.3:c.1214A>T XP_005263773.1:p.Lys405Met
XM_005263717.3:c.1112A>T XP_005263774.1:p.Lys371Met
XR_923313.1:n.1332-345T>A
XM_005263717.4:c.1112A>T XP_005263774.1:p.Lys371Met
XM_017004505.1:c.1292A>T XP_016859994.1:p.Lys431Met
XM_024453002.1:c.1394A>T XP_024308770.1:p.Lys465Met
XM_024453003.1:c.1334A>T XP_024308771.1:p.Lys445Met
XM_024453004.1:c.1232A>T XP_024308772.1:p.Lys411Met
XM_024453005.1:c.1214A>T XP_024308773.1:p.Lys405Met
XM_024453006.1:c.1151A>T XP_024308774.1:p.Lys384Met
XR_001739705.1:n.3607-345T>A
XR_923313.2:n.4043-345T>A
NM_000312.4:c.1049A>T MANE Select NP_000303.1:p.Lys350Met
NM_001375602.1:c.1232A>T NP_001362531.1:p.Lys411Met
NM_001375603.1:c.1214A>T NP_001362532.1:p.Lys405Met
NM_001375604.1:c.1112A>T NP_001362533.1:p.Lys371Met
NM_001375605.1:c.1151A>T NP_001362534.1:p.Lys384Met
NM_001375606.1:c.1217A>T NP_001362535.1:p.Lys406Met
NM_001375607.1:c.1235A>T NP_001362536.1:p.Lys412Met
NM_001375608.1:c.992A>T NP_001362537.1:p.Lys331Met
NM_001375609.1:c.1025A>T NP_001362538.1:p.Lys342Met
NM_001375610.1:c.1043A>T NP_001362539.1:p.Lys348Met
NM_001375611.1:c.1049A>T NP_001362540.1:p.Lys350Met
NM_001375613.1:c.1049A>T NP_001362542.1:p.Lys350Met