Canonical Allele Identifier: CA348405166

Gene: PROC

Linked Data

• ClinVar Variation Id: 1981649
• ClinVar RCV Id: RCV002794826
• dbSNP Id: rs1192356099
• gnomAD v2: 2-128186109-C-A
• gnomAD v4: 2-127428533-C-A
• MyVariant Identifiers: chr2:g.128186109C>A (hg19) ; chr2:g.127428533C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127428533C>A , CM000664.2:g.127428533C>A	GRCh38
NC_000002.11:g.128186109C>A , CM000664.1:g.128186109C>A	GRCh37
NC_000002.10:g.127902579C>A	NCBI36
NG_016323.1:g.15114C>A , LRG_599:g.15114C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234071.8:c.973C>A MANE Select	ENSP00000234071.4:p.Leu325Ile
ENST00000234071.7:c.973C>A	ENSP00000234071.3:p.Leu325Ile
ENST00000402125.2:c.297C>A
ENST00000409048.1:c.1075C>A	ENSP00000386679.1:p.Leu359Ile
NM_000312.3:c.973C>A , LRG_599t1:c.973C>A	NP_000303.1:p.Leu325Ile
XM_005263715.3:c.1156C>A	XP_005263772.1:p.Leu386Ile
XM_005263716.3:c.1138C>A	XP_005263773.1:p.Leu380Ile
XM_005263717.3:c.1036C>A	XP_005263774.1:p.Leu346Ile
XR_923313.1:n.1332-269G>T
XM_005263717.4:c.1036C>A	XP_005263774.1:p.Leu346Ile
XM_017004505.1:c.1216C>A	XP_016859994.1:p.Leu406Ile
XM_024453002.1:c.1318C>A	XP_024308770.1:p.Leu440Ile
XM_024453003.1:c.1258C>A	XP_024308771.1:p.Leu420Ile
XM_024453004.1:c.1156C>A	XP_024308772.1:p.Leu386Ile
XM_024453005.1:c.1138C>A	XP_024308773.1:p.Leu380Ile
XM_024453006.1:c.1075C>A	XP_024308774.1:p.Leu359Ile
XR_001739705.1:n.3607-269G>T
XR_923313.2:n.4043-269G>T
NM_000312.4:c.973C>A MANE Select	NP_000303.1:p.Leu325Ile
NM_001375602.1:c.1156C>A	NP_001362531.1:p.Leu386Ile
NM_001375603.1:c.1138C>A	NP_001362532.1:p.Leu380Ile
NM_001375604.1:c.1036C>A	NP_001362533.1:p.Leu346Ile
NM_001375605.1:c.1075C>A	NP_001362534.1:p.Leu359Ile
NM_001375606.1:c.1141C>A	NP_001362535.1:p.Leu381Ile
NM_001375607.1:c.1159C>A	NP_001362536.1:p.Leu387Ile
NM_001375608.1:c.916C>A	NP_001362537.1:p.Leu306Ile
NM_001375609.1:c.949C>A	NP_001362538.1:p.Leu317Ile
NM_001375610.1:c.967C>A	NP_001362539.1:p.Leu323Ile
NM_001375611.1:c.973C>A	NP_001362540.1:p.Leu325Ile
NM_001375613.1:c.973C>A	NP_001362542.1:p.Leu325Ile