Canonical Allele Identifier: CA1859500

Gene: PROC

Linked Data

• dbSNP Id: rs776245026
• ExAC: 2:128186128 A / G
• gnomAD v2: 2-128186128-A-G
• gnomAD v3: 2-127428552-A-G
• gnomAD v4: 2-127428552-A-G
• MyVariant Identifiers: chr2:g.128186128A>G (hg19) ; chr2:g.127428552A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127428552A>G , CM000664.2:g.127428552A>G	GRCh38
NC_000002.11:g.128186128A>G , CM000664.1:g.128186128A>G	GRCh37
NC_000002.10:g.127902598A>G	NCBI36
NG_016323.1:g.15133A>G , LRG_599:g.15133A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234071.8:c.992A>G MANE Select	ENSP00000234071.4:p.Asn331Ser
ENST00000234071.7:c.992A>G	ENSP00000234071.3:p.Asn331Ser
ENST00000402125.2:c.316A>G
ENST00000409048.1:c.1094A>G	ENSP00000386679.1:p.Asn365Ser
NM_000312.3:c.992A>G , LRG_599t1:c.992A>G	NP_000303.1:p.Asn331Ser
XM_005263715.3:c.1175A>G	XP_005263772.1:p.Asn392Ser
XM_005263716.3:c.1157A>G	XP_005263773.1:p.Asn386Ser
XM_005263717.3:c.1055A>G	XP_005263774.1:p.Asn352Ser
XR_923313.1:n.1332-288T>C
XM_005263717.4:c.1055A>G	XP_005263774.1:p.Asn352Ser
XM_017004505.1:c.1235A>G	XP_016859994.1:p.Asn412Ser
XM_024453002.1:c.1337A>G	XP_024308770.1:p.Asn446Ser
XM_024453003.1:c.1277A>G	XP_024308771.1:p.Asn426Ser
XM_024453004.1:c.1175A>G	XP_024308772.1:p.Asn392Ser
XM_024453005.1:c.1157A>G	XP_024308773.1:p.Asn386Ser
XM_024453006.1:c.1094A>G	XP_024308774.1:p.Asn365Ser
XR_001739705.1:n.3607-288T>C
XR_923313.2:n.4043-288T>C
NM_000312.4:c.992A>G MANE Select	NP_000303.1:p.Asn331Ser
NM_001375602.1:c.1175A>G	NP_001362531.1:p.Asn392Ser
NM_001375603.1:c.1157A>G	NP_001362532.1:p.Asn386Ser
NM_001375604.1:c.1055A>G	NP_001362533.1:p.Asn352Ser
NM_001375605.1:c.1094A>G	NP_001362534.1:p.Asn365Ser
NM_001375606.1:c.1160A>G	NP_001362535.1:p.Asn387Ser
NM_001375607.1:c.1178A>G	NP_001362536.1:p.Asn393Ser
NM_001375608.1:c.935A>G	NP_001362537.1:p.Asn312Ser
NM_001375609.1:c.968A>G	NP_001362538.1:p.Asn323Ser
NM_001375610.1:c.986A>G	NP_001362539.1:p.Asn329Ser
NM_001375611.1:c.992A>G	NP_001362540.1:p.Asn331Ser
NM_001375613.1:c.992A>G	NP_001362542.1:p.Asn331Ser