Canonical Allele Identifier: CA348405866

Gene: PROC

Linked Data

• MyVariant Identifiers: chr2:g.128186254G>A (hg19) ; chr2:g.127428678G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127428678G>A , CM000664.2:g.127428678G>A	GRCh38
NC_000002.11:g.128186254G>A , CM000664.1:g.128186254G>A	GRCh37
NC_000002.10:g.127902724G>A	NCBI36
NG_016323.1:g.15259G>A , LRG_599:g.15259G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234071.8:c.1118G>A MANE Select	ENSP00000234071.4:p.Cys373Tyr
ENST00000234071.7:c.1118G>A	ENSP00000234071.3:p.Cys373Tyr
ENST00000402125.2:c.442G>A
ENST00000409048.1:c.1220G>A	ENSP00000386679.1:p.Cys407Tyr
NM_000312.3:c.1118G>A , LRG_599t1:c.1118G>A	NP_000303.1:p.Cys373Tyr
XM_005263715.3:c.1301G>A	XP_005263772.1:p.Cys434Tyr
XM_005263716.3:c.1283G>A	XP_005263773.1:p.Cys428Tyr
XM_005263717.3:c.1181G>A	XP_005263774.1:p.Cys394Tyr
XR_923313.1:n.1332-414C>T
XM_005263717.4:c.1181G>A	XP_005263774.1:p.Cys394Tyr
XM_017004505.1:c.1361G>A	XP_016859994.1:p.Cys454Tyr
XM_024453002.1:c.1463G>A	XP_024308770.1:p.Cys488Tyr
XM_024453003.1:c.1403G>A	XP_024308771.1:p.Cys468Tyr
XM_024453004.1:c.1301G>A	XP_024308772.1:p.Cys434Tyr
XM_024453005.1:c.1283G>A	XP_024308773.1:p.Cys428Tyr
XM_024453006.1:c.1220G>A	XP_024308774.1:p.Cys407Tyr
XR_001739705.1:n.3607-414C>T
XR_923313.2:n.4043-414C>T
NM_000312.4:c.1118G>A MANE Select	NP_000303.1:p.Cys373Tyr
NM_001375602.1:c.1301G>A	NP_001362531.1:p.Cys434Tyr
NM_001375603.1:c.1283G>A	NP_001362532.1:p.Cys428Tyr
NM_001375604.1:c.1181G>A	NP_001362533.1:p.Cys394Tyr
NM_001375605.1:c.1220G>A	NP_001362534.1:p.Cys407Tyr
NM_001375606.1:c.1286G>A	NP_001362535.1:p.Cys429Tyr
NM_001375607.1:c.1304G>A	NP_001362536.1:p.Cys435Tyr
NM_001375608.1:c.1061G>A	NP_001362537.1:p.Cys354Tyr
NM_001375609.1:c.1094G>A	NP_001362538.1:p.Cys365Tyr
NM_001375610.1:c.1112G>A	NP_001362539.1:p.Cys371Tyr
NM_001375611.1:c.1118G>A	NP_001362540.1:p.Cys373Tyr
NM_001375613.1:c.1118G>A	NP_001362542.1:p.Cys373Tyr