Canonical Allele Identifier: CA348405290

Gene: PROC

Linked Data

• MyVariant Identifiers: chr2:g.128186130C>A (hg19) ; chr2:g.127428554C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127428554C>A , CM000664.2:g.127428554C>A	GRCh38
NC_000002.11:g.128186130C>A , CM000664.1:g.128186130C>A	GRCh37
NC_000002.10:g.127902600C>A	NCBI36
NG_016323.1:g.15135C>A , LRG_599:g.15135C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234071.8:c.994C>A MANE Select	ENSP00000234071.4:p.Gln332Lys
ENST00000234071.7:c.994C>A	ENSP00000234071.3:p.Gln332Lys
ENST00000402125.2:c.318C>A
ENST00000409048.1:c.1096C>A	ENSP00000386679.1:p.Gln366Lys
NM_000312.3:c.994C>A , LRG_599t1:c.994C>A	NP_000303.1:p.Gln332Lys
XM_005263715.3:c.1177C>A	XP_005263772.1:p.Gln393Lys
XM_005263716.3:c.1159C>A	XP_005263773.1:p.Gln387Lys
XM_005263717.3:c.1057C>A	XP_005263774.1:p.Gln353Lys
XR_923313.1:n.1332-290G>T
XM_005263717.4:c.1057C>A	XP_005263774.1:p.Gln353Lys
XM_017004505.1:c.1237C>A	XP_016859994.1:p.Gln413Lys
XM_024453002.1:c.1339C>A	XP_024308770.1:p.Gln447Lys
XM_024453003.1:c.1279C>A	XP_024308771.1:p.Gln427Lys
XM_024453004.1:c.1177C>A	XP_024308772.1:p.Gln393Lys
XM_024453005.1:c.1159C>A	XP_024308773.1:p.Gln387Lys
XM_024453006.1:c.1096C>A	XP_024308774.1:p.Gln366Lys
XR_001739705.1:n.3607-290G>T
XR_923313.2:n.4043-290G>T
NM_000312.4:c.994C>A MANE Select	NP_000303.1:p.Gln332Lys
NM_001375602.1:c.1177C>A	NP_001362531.1:p.Gln393Lys
NM_001375603.1:c.1159C>A	NP_001362532.1:p.Gln387Lys
NM_001375604.1:c.1057C>A	NP_001362533.1:p.Gln353Lys
NM_001375605.1:c.1096C>A	NP_001362534.1:p.Gln366Lys
NM_001375606.1:c.1162C>A	NP_001362535.1:p.Gln388Lys
NM_001375607.1:c.1180C>A	NP_001362536.1:p.Gln394Lys
NM_001375608.1:c.937C>A	NP_001362537.1:p.Gln313Lys
NM_001375609.1:c.970C>A	NP_001362538.1:p.Gln324Lys
NM_001375610.1:c.988C>A	NP_001362539.1:p.Gln330Lys
NM_001375611.1:c.994C>A	NP_001362540.1:p.Gln332Lys
NM_001375613.1:c.994C>A	NP_001362542.1:p.Gln332Lys