Canonical Allele Identifier: CA348406486

Gene: PROC

Linked Data

• ClinVar Variation Id: 2573786
• ClinVar RCV Id: RCV003318122
• MyVariant Identifiers: chr2:g.128186398G>A (hg19) ; chr2:g.127428822G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127428822G>A , CM000664.2:g.127428822G>A	GRCh38
NC_000002.11:g.128186398G>A , CM000664.1:g.128186398G>A	GRCh37
NC_000002.10:g.127902868G>A	NCBI36
NG_016323.1:g.15403G>A , LRG_599:g.15403G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000234071.8:c.1262G>A MANE Select	ENSP00000234071.4:p.Ser421Asn
ENST00000234071.7:c.1262G>A	ENSP00000234071.3:p.Ser421Asn
ENST00000402125.2:c.586G>A
ENST00000409048.1:c.1364G>A	ENSP00000386679.1:p.Ser455Asn
NM_000312.3:c.1262G>A , LRG_599t1:c.1262G>A	NP_000303.1:p.Ser421Asn
XM_005263715.3:c.1445G>A	XP_005263772.1:p.Ser482Asn
XM_005263716.3:c.1427G>A	XP_005263773.1:p.Ser476Asn
XM_005263717.3:c.1325G>A	XP_005263774.1:p.Ser442Asn
XR_923313.1:n.1332-558C>T
XM_005263717.4:c.1325G>A	XP_005263774.1:p.Ser442Asn
XM_017004505.1:c.1505G>A	XP_016859994.1:p.Ser502Asn
XM_024453002.1:c.1607G>A	XP_024308770.1:p.Ser536Asn
XM_024453003.1:c.1547G>A	XP_024308771.1:p.Ser516Asn
XM_024453004.1:c.1445G>A	XP_024308772.1:p.Ser482Asn
XM_024453005.1:c.1427G>A	XP_024308773.1:p.Ser476Asn
XM_024453006.1:c.1364G>A	XP_024308774.1:p.Ser455Asn
XR_001739705.1:n.3607-558C>T
XR_923313.2:n.4043-558C>T
NM_000312.4:c.1262G>A MANE Select	NP_000303.1:p.Ser421Asn
NM_001375602.1:c.1445G>A	NP_001362531.1:p.Ser482Asn
NM_001375603.1:c.1427G>A	NP_001362532.1:p.Ser476Asn
NM_001375604.1:c.1325G>A	NP_001362533.1:p.Ser442Asn
NM_001375605.1:c.1364G>A	NP_001362534.1:p.Ser455Asn
NM_001375606.1:c.1430G>A	NP_001362535.1:p.Ser477Asn
NM_001375607.1:c.1448G>A	NP_001362536.1:p.Ser483Asn
NM_001375608.1:c.1205G>A	NP_001362537.1:p.Ser402Asn
NM_001375609.1:c.1238G>A	NP_001362538.1:p.Ser413Asn
NM_001375610.1:c.1256G>A	NP_001362539.1:p.Ser419Asn
NM_001375611.1:c.1262G>A	NP_001362540.1:p.Ser421Asn
NM_001375613.1:c.1262G>A	NP_001362542.1:p.Ser421Asn