Canonical Allele Identifier: CA428871877

Gene: PROC

Linked Data

• ClinVar Variation Id: 2046463
• ClinVar RCV Id: RCV002913689
• gnomAD v4: 2-127428565-G-A
• MyVariant Identifiers: chr2:g.128186141G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127428565G>A , CM000664.2:g.127428565G>A	GRCh38
NC_000002.11:g.128186141G>A , CM000664.1:g.128186141G>A	GRCh37
NC_000002.10:g.127902611G>A	NCBI36
NG_016323.1:g.15146G>A , LRG_599:g.15146G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234071.8:c.1005G>A MANE Select	ENSP00000234071.4:p.Gln335=
ENST00000234071.7:c.1005G>A	ENSP00000234071.3:p.Gln335=
ENST00000402125.2:c.329G>A
ENST00000409048.1:c.1107G>A	ENSP00000386679.1:p.Gln369=
NM_000312.3:c.1005G>A , LRG_599t1:c.1005G>A	NP_000303.1:p.Gln335=
XM_005263715.3:c.1188G>A	XP_005263772.1:p.Gln396=
XM_005263716.3:c.1170G>A	XP_005263773.1:p.Gln390=
XM_005263717.3:c.1068G>A	XP_005263774.1:p.Gln356=
XR_923313.1:n.1332-301C>T
XM_005263717.4:c.1068G>A	XP_005263774.1:p.Gln356=
XM_017004505.1:c.1248G>A	XP_016859994.1:p.Gln416=
XM_024453002.1:c.1350G>A	XP_024308770.1:p.Gln450=
XM_024453003.1:c.1290G>A	XP_024308771.1:p.Gln430=
XM_024453004.1:c.1188G>A	XP_024308772.1:p.Gln396=
XM_024453005.1:c.1170G>A	XP_024308773.1:p.Gln390=
XM_024453006.1:c.1107G>A	XP_024308774.1:p.Gln369=
XR_001739705.1:n.3607-301C>T
XR_923313.2:n.4043-301C>T
NM_000312.4:c.1005G>A MANE Select	NP_000303.1:p.Gln335=
NM_001375602.1:c.1188G>A	NP_001362531.1:p.Gln396=
NM_001375603.1:c.1170G>A	NP_001362532.1:p.Gln390=
NM_001375604.1:c.1068G>A	NP_001362533.1:p.Gln356=
NM_001375605.1:c.1107G>A	NP_001362534.1:p.Gln369=
NM_001375606.1:c.1173G>A	NP_001362535.1:p.Gln391=
NM_001375607.1:c.1191G>A	NP_001362536.1:p.Gln397=
NM_001375608.1:c.948G>A	NP_001362537.1:p.Gln316=
NM_001375609.1:c.981G>A	NP_001362538.1:p.Gln327=
NM_001375610.1:c.999G>A	NP_001362539.1:p.Gln333=
NM_001375611.1:c.1005G>A	NP_001362540.1:p.Gln335=
NM_001375613.1:c.1005G>A	NP_001362542.1:p.Gln335=