Canonical Allele Identifier: CA428871847
Gene: PROC HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.128186135C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.127428559C>A , CM000664.2:g.127428559C>A GRCh38
NC_000002.11:g.128186135C>A , CM000664.1:g.128186135C>A GRCh37
NC_000002.10:g.127902605C>A NCBI36
NG_016323.1:g.15140C>A , LRG_599:g.15140C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000234071.8:c.999C>A MANE Select ENSP00000234071.4:p.Ala333=
ENST00000234071.7:c.999C>A ENSP00000234071.3:p.Ala333=
ENST00000402125.2:c.323C>A
ENST00000409048.1:c.1101C>A ENSP00000386679.1:p.Ala367=
NM_000312.3:c.999C>A , LRG_599t1:c.999C>A NP_000303.1:p.Ala333=
XM_005263715.3:c.1182C>A XP_005263772.1:p.Ala394=
XM_005263716.3:c.1164C>A XP_005263773.1:p.Ala388=
XM_005263717.3:c.1062C>A XP_005263774.1:p.Ala354=
XR_923313.1:n.1332-295G>T
XM_005263717.4:c.1062C>A XP_005263774.1:p.Ala354=
XM_017004505.1:c.1242C>A XP_016859994.1:p.Ala414=
XM_024453002.1:c.1344C>A XP_024308770.1:p.Ala448=
XM_024453003.1:c.1284C>A XP_024308771.1:p.Ala428=
XM_024453004.1:c.1182C>A XP_024308772.1:p.Ala394=
XM_024453005.1:c.1164C>A XP_024308773.1:p.Ala388=
XM_024453006.1:c.1101C>A XP_024308774.1:p.Ala367=
XR_001739705.1:n.3607-295G>T
XR_923313.2:n.4043-295G>T
NM_000312.4:c.999C>A MANE Select NP_000303.1:p.Ala333=
NM_001375602.1:c.1182C>A NP_001362531.1:p.Ala394=
NM_001375603.1:c.1164C>A NP_001362532.1:p.Ala388=
NM_001375604.1:c.1062C>A NP_001362533.1:p.Ala354=
NM_001375605.1:c.1101C>A NP_001362534.1:p.Ala367=
NM_001375606.1:c.1167C>A NP_001362535.1:p.Ala389=
NM_001375607.1:c.1185C>A NP_001362536.1:p.Ala395=
NM_001375608.1:c.942C>A NP_001362537.1:p.Ala314=
NM_001375609.1:c.975C>A NP_001362538.1:p.Ala325=
NM_001375610.1:c.993C>A NP_001362539.1:p.Ala331=
NM_001375611.1:c.999C>A NP_001362540.1:p.Ala333=
NM_001375613.1:c.999C>A NP_001362542.1:p.Ala333=