Canonical Allele Identifier: CA348406003

Gene: PROC

Linked Data

• dbSNP Id: rs1375343219
• MyVariant Identifiers: chr2:g.128186284A>T (hg19) ; chr2:g.127428708A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127428708A>T , CM000664.2:g.127428708A>T	GRCh38
NC_000002.11:g.128186284A>T , CM000664.1:g.128186284A>T	GRCh37
NC_000002.10:g.127902754A>T	NCBI36
NG_016323.1:g.15289A>T , LRG_599:g.15289A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234071.8:c.1148A>T MANE Select	ENSP00000234071.4:p.Glu383Val
ENST00000234071.7:c.1148A>T	ENSP00000234071.3:p.Glu383Val
ENST00000402125.2:c.472A>T
ENST00000409048.1:c.1250A>T	ENSP00000386679.1:p.Glu417Val
NM_000312.3:c.1148A>T , LRG_599t1:c.1148A>T	NP_000303.1:p.Glu383Val
XM_005263715.3:c.1331A>T	XP_005263772.1:p.Glu444Val
XM_005263716.3:c.1313A>T	XP_005263773.1:p.Glu438Val
XM_005263717.3:c.1211A>T	XP_005263774.1:p.Glu404Val
XR_923313.1:n.1332-444T>A
XM_005263717.4:c.1211A>T	XP_005263774.1:p.Glu404Val
XM_017004505.1:c.1391A>T	XP_016859994.1:p.Glu464Val
XM_024453002.1:c.1493A>T	XP_024308770.1:p.Glu498Val
XM_024453003.1:c.1433A>T	XP_024308771.1:p.Glu478Val
XM_024453004.1:c.1331A>T	XP_024308772.1:p.Glu444Val
XM_024453005.1:c.1313A>T	XP_024308773.1:p.Glu438Val
XM_024453006.1:c.1250A>T	XP_024308774.1:p.Glu417Val
XR_001739705.1:n.3607-444T>A
XR_923313.2:n.4043-444T>A
NM_000312.4:c.1148A>T MANE Select	NP_000303.1:p.Glu383Val
NM_001375602.1:c.1331A>T	NP_001362531.1:p.Glu444Val
NM_001375603.1:c.1313A>T	NP_001362532.1:p.Glu438Val
NM_001375604.1:c.1211A>T	NP_001362533.1:p.Glu404Val
NM_001375605.1:c.1250A>T	NP_001362534.1:p.Glu417Val
NM_001375606.1:c.1316A>T	NP_001362535.1:p.Glu439Val
NM_001375607.1:c.1334A>T	NP_001362536.1:p.Glu445Val
NM_001375608.1:c.1091A>T	NP_001362537.1:p.Glu364Val
NM_001375609.1:c.1124A>T	NP_001362538.1:p.Glu375Val
NM_001375610.1:c.1142A>T	NP_001362539.1:p.Glu381Val
NM_001375611.1:c.1148A>T	NP_001362540.1:p.Glu383Val
NM_001375613.1:c.1148A>T	NP_001362542.1:p.Glu383Val