Canonical Allele Identifier: CA348405312

Gene: PROC

Linked Data

• ClinVar Variation Id: 2159349
• ClinVar RCV Id: RCV003072771
• MyVariant Identifiers: chr2:g.128186133G>A (hg19) ; chr2:g.127428557G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127428557G>A , CM000664.2:g.127428557G>A	GRCh38
NC_000002.11:g.128186133G>A , CM000664.1:g.128186133G>A	GRCh37
NC_000002.10:g.127902603G>A	NCBI36
NG_016323.1:g.15138G>A , LRG_599:g.15138G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234071.8:c.997G>A MANE Select	ENSP00000234071.4:p.Ala333Thr
ENST00000234071.7:c.997G>A	ENSP00000234071.3:p.Ala333Thr
ENST00000402125.2:c.321G>A
ENST00000409048.1:c.1099G>A	ENSP00000386679.1:p.Ala367Thr
NM_000312.3:c.997G>A , LRG_599t1:c.997G>A	NP_000303.1:p.Ala333Thr
XM_005263715.3:c.1180G>A	XP_005263772.1:p.Ala394Thr
XM_005263716.3:c.1162G>A	XP_005263773.1:p.Ala388Thr
XM_005263717.3:c.1060G>A	XP_005263774.1:p.Ala354Thr
XR_923313.1:n.1332-293C>T
XM_005263717.4:c.1060G>A	XP_005263774.1:p.Ala354Thr
XM_017004505.1:c.1240G>A	XP_016859994.1:p.Ala414Thr
XM_024453002.1:c.1342G>A	XP_024308770.1:p.Ala448Thr
XM_024453003.1:c.1282G>A	XP_024308771.1:p.Ala428Thr
XM_024453004.1:c.1180G>A	XP_024308772.1:p.Ala394Thr
XM_024453005.1:c.1162G>A	XP_024308773.1:p.Ala388Thr
XM_024453006.1:c.1099G>A	XP_024308774.1:p.Ala367Thr
XR_001739705.1:n.3607-293C>T
XR_923313.2:n.4043-293C>T
NM_000312.4:c.997G>A MANE Select	NP_000303.1:p.Ala333Thr
NM_001375602.1:c.1180G>A	NP_001362531.1:p.Ala394Thr
NM_001375603.1:c.1162G>A	NP_001362532.1:p.Ala388Thr
NM_001375604.1:c.1060G>A	NP_001362533.1:p.Ala354Thr
NM_001375605.1:c.1099G>A	NP_001362534.1:p.Ala367Thr
NM_001375606.1:c.1165G>A	NP_001362535.1:p.Ala389Thr
NM_001375607.1:c.1183G>A	NP_001362536.1:p.Ala395Thr
NM_001375608.1:c.940G>A	NP_001362537.1:p.Ala314Thr
NM_001375609.1:c.973G>A	NP_001362538.1:p.Ala325Thr
NM_001375610.1:c.991G>A	NP_001362539.1:p.Ala331Thr
NM_001375611.1:c.997G>A	NP_001362540.1:p.Ala333Thr
NM_001375613.1:c.997G>A	NP_001362542.1:p.Ala333Thr