Canonical Allele Identifier: CA55351063

Gene: PROC

Linked Data

• ClinVar Variation Id: 858029
• ClinVar RCV Id: RCV001063824
• dbSNP Id: rs769300513
• gnomAD v2: 2-128186210-C-A
• gnomAD v3: 2-127428634-C-A
• gnomAD v4: 2-127428634-C-A
• MyVariant Identifiers: chr2:g.128186210C>A (hg19) ; chr2:g.127428634C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127428634C>A , CM000664.2:g.127428634C>A	GRCh38
NC_000002.11:g.128186210C>A , CM000664.1:g.128186210C>A	GRCh37
NC_000002.10:g.127902680C>A	NCBI36
NG_016323.1:g.15215C>A , LRG_599:g.15215C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000234071.8:c.1074C>A MANE Select	ENSP00000234071.4:p.Phe358Leu
ENST00000234071.7:c.1074C>A	ENSP00000234071.3:p.Phe358Leu
ENST00000402125.2:c.398C>A
ENST00000409048.1:c.1176C>A	ENSP00000386679.1:p.Phe392Leu
NM_000312.3:c.1074C>A , LRG_599t1:c.1074C>A	NP_000303.1:p.Phe358Leu
XM_005263715.3:c.1257C>A	XP_005263772.1:p.Phe419Leu
XM_005263716.3:c.1239C>A	XP_005263773.1:p.Phe413Leu
XM_005263717.3:c.1137C>A	XP_005263774.1:p.Phe379Leu
XR_923313.1:n.1332-370G>T
XM_005263717.4:c.1137C>A	XP_005263774.1:p.Phe379Leu
XM_017004505.1:c.1317C>A	XP_016859994.1:p.Phe439Leu
XM_024453002.1:c.1419C>A	XP_024308770.1:p.Phe473Leu
XM_024453003.1:c.1359C>A	XP_024308771.1:p.Phe453Leu
XM_024453004.1:c.1257C>A	XP_024308772.1:p.Phe419Leu
XM_024453005.1:c.1239C>A	XP_024308773.1:p.Phe413Leu
XM_024453006.1:c.1176C>A	XP_024308774.1:p.Phe392Leu
XR_001739705.1:n.3607-370G>T
XR_923313.2:n.4043-370G>T
NM_000312.4:c.1074C>A MANE Select	NP_000303.1:p.Phe358Leu
NM_001375602.1:c.1257C>A	NP_001362531.1:p.Phe419Leu
NM_001375603.1:c.1239C>A	NP_001362532.1:p.Phe413Leu
NM_001375604.1:c.1137C>A	NP_001362533.1:p.Phe379Leu
NM_001375605.1:c.1176C>A	NP_001362534.1:p.Phe392Leu
NM_001375606.1:c.1242C>A	NP_001362535.1:p.Phe414Leu
NM_001375607.1:c.1260C>A	NP_001362536.1:p.Phe420Leu
NM_001375608.1:c.1017C>A	NP_001362537.1:p.Phe339Leu
NM_001375609.1:c.1050C>A	NP_001362538.1:p.Phe350Leu
NM_001375610.1:c.1068C>A	NP_001362539.1:p.Phe356Leu
NM_001375611.1:c.1074C>A	NP_001362540.1:p.Phe358Leu
NM_001375613.1:c.1074C>A	NP_001362542.1:p.Phe358Leu