Canonical Allele Identifier: CA1859540

Gene: PROC

Linked Data

• dbSNP Id: rs767219916
• ExAC: 2:128186317 G / A
• gnomAD v2: 2-128186317-G-A
• gnomAD v3: 2-127428741-G-A
• gnomAD v4: 2-127428741-G-A
• MyVariant Identifiers: chr2:g.128186317G>A (hg19) ; chr2:g.127428741G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127428741G>A , CM000664.2:g.127428741G>A	GRCh38
NC_000002.11:g.128186317G>A , CM000664.1:g.128186317G>A	GRCh37
NC_000002.10:g.127902787G>A	NCBI36
NG_016323.1:g.15322G>A , LRG_599:g.15322G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000234071.8:c.1181G>A MANE Select	ENSP00000234071.4:p.Arg394Gln
ENST00000234071.7:c.1181G>A	ENSP00000234071.3:p.Arg394Gln
ENST00000402125.2:c.505G>A
ENST00000409048.1:c.1283G>A	ENSP00000386679.1:p.Arg428Gln
NM_000312.3:c.1181G>A , LRG_599t1:c.1181G>A	NP_000303.1:p.Arg394Gln
XM_005263715.3:c.1364G>A	XP_005263772.1:p.Arg455Gln
XM_005263716.3:c.1346G>A	XP_005263773.1:p.Arg449Gln
XM_005263717.3:c.1244G>A	XP_005263774.1:p.Arg415Gln
XR_923313.1:n.1332-477C>T
XM_005263717.4:c.1244G>A	XP_005263774.1:p.Arg415Gln
XM_017004505.1:c.1424G>A	XP_016859994.1:p.Arg475Gln
XM_024453002.1:c.1526G>A	XP_024308770.1:p.Arg509Gln
XM_024453003.1:c.1466G>A	XP_024308771.1:p.Arg489Gln
XM_024453004.1:c.1364G>A	XP_024308772.1:p.Arg455Gln
XM_024453005.1:c.1346G>A	XP_024308773.1:p.Arg449Gln
XM_024453006.1:c.1283G>A	XP_024308774.1:p.Arg428Gln
XR_001739705.1:n.3607-477C>T
XR_923313.2:n.4043-477C>T
NM_000312.4:c.1181G>A MANE Select	NP_000303.1:p.Arg394Gln
NM_001375602.1:c.1364G>A	NP_001362531.1:p.Arg455Gln
NM_001375603.1:c.1346G>A	NP_001362532.1:p.Arg449Gln
NM_001375604.1:c.1244G>A	NP_001362533.1:p.Arg415Gln
NM_001375605.1:c.1283G>A	NP_001362534.1:p.Arg428Gln
NM_001375606.1:c.1349G>A	NP_001362535.1:p.Arg450Gln
NM_001375607.1:c.1367G>A	NP_001362536.1:p.Arg456Gln
NM_001375608.1:c.1124G>A	NP_001362537.1:p.Arg375Gln
NM_001375609.1:c.1157G>A	NP_001362538.1:p.Arg386Gln
NM_001375610.1:c.1175G>A	NP_001362539.1:p.Arg392Gln
NM_001375611.1:c.1181G>A	NP_001362540.1:p.Arg394Gln
NM_001375613.1:c.1181G>A	NP_001362542.1:p.Arg394Gln