Canonical Allele Identifier: CA1859515

Gene: PROC

Linked Data

• ClinVar Variation Id: 1446701
• ClinVar RCV Id: RCV001987798
• dbSNP Id: rs776173921
• ExAC: 2:128186202 C / T
• gnomAD v2: 2-128186202-C-T
• gnomAD v3: 2-127428626-C-T
• gnomAD v4: 2-127428626-C-T
• MyVariant Identifiers: chr2:g.128186202C>T (hg19) ; chr2:g.127428626C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127428626C>T , CM000664.2:g.127428626C>T	GRCh38
NC_000002.11:g.128186202C>T , CM000664.1:g.128186202C>T	GRCh37
NC_000002.10:g.127902672C>T	NCBI36
NG_016323.1:g.15207C>T , LRG_599:g.15207C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000234071.8:c.1066C>T MANE Select	ENSP00000234071.4:p.Arg356Cys
ENST00000234071.7:c.1066C>T	ENSP00000234071.3:p.Arg356Cys
ENST00000402125.2:c.390C>T
ENST00000409048.1:c.1168C>T	ENSP00000386679.1:p.Arg390Cys
NM_000312.3:c.1066C>T , LRG_599t1:c.1066C>T	NP_000303.1:p.Arg356Cys
XM_005263715.3:c.1249C>T	XP_005263772.1:p.Arg417Cys
XM_005263716.3:c.1231C>T	XP_005263773.1:p.Arg411Cys
XM_005263717.3:c.1129C>T	XP_005263774.1:p.Arg377Cys
XR_923313.1:n.1332-362G>A
XM_005263717.4:c.1129C>T	XP_005263774.1:p.Arg377Cys
XM_017004505.1:c.1309C>T	XP_016859994.1:p.Arg437Cys
XM_024453002.1:c.1411C>T	XP_024308770.1:p.Arg471Cys
XM_024453003.1:c.1351C>T	XP_024308771.1:p.Arg451Cys
XM_024453004.1:c.1249C>T	XP_024308772.1:p.Arg417Cys
XM_024453005.1:c.1231C>T	XP_024308773.1:p.Arg411Cys
XM_024453006.1:c.1168C>T	XP_024308774.1:p.Arg390Cys
XR_001739705.1:n.3607-362G>A
XR_923313.2:n.4043-362G>A
NM_000312.4:c.1066C>T MANE Select	NP_000303.1:p.Arg356Cys
NM_001375602.1:c.1249C>T	NP_001362531.1:p.Arg417Cys
NM_001375603.1:c.1231C>T	NP_001362532.1:p.Arg411Cys
NM_001375604.1:c.1129C>T	NP_001362533.1:p.Arg377Cys
NM_001375605.1:c.1168C>T	NP_001362534.1:p.Arg390Cys
NM_001375606.1:c.1234C>T	NP_001362535.1:p.Arg412Cys
NM_001375607.1:c.1252C>T	NP_001362536.1:p.Arg418Cys
NM_001375608.1:c.1009C>T	NP_001362537.1:p.Arg337Cys
NM_001375609.1:c.1042C>T	NP_001362538.1:p.Arg348Cys
NM_001375610.1:c.1060C>T	NP_001362539.1:p.Arg354Cys
NM_001375611.1:c.1066C>T	NP_001362540.1:p.Arg356Cys
NM_001375613.1:c.1066C>T	NP_001362542.1:p.Arg356Cys