Canonical Allele Identifier: CA1859242

Gene: PROC

Linked Data

• ClinVar Variation Id: 800485
• ClinVar RCV Id: RCV000984471 ; RCV002488071
• dbSNP Id: rs773107370
• ExAC: 2:128178901 G / A
• gnomAD v2: 2-128178901-G-A
• gnomAD v3: 2-127421325-G-A
• gnomAD v4: 2-127421325-G-A
• COSMIC: COSM1222126
• MyVariant Identifiers: chr2:g.128178901G>A (hg19) ; chr2:g.127421325G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127421325G>A , CM000664.2:g.127421325G>A	GRCh38
NC_000002.11:g.128178901G>A , CM000664.1:g.128178901G>A	GRCh37
NC_000002.10:g.127895371G>A	NCBI36
NG_016323.1:g.7906G>A , LRG_599:g.7906G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000234071.8:c.113G>A MANE Select	ENSP00000234071.4:p.Arg38Gln
ENST00000234071.7:c.113G>A	ENSP00000234071.3:p.Arg38Gln
ENST00000409048.1:c.113G>A	ENSP00000386679.1:p.Arg38Gln
ENST00000419985.5:c.78G>A	ENSP00000392606.1:p.Ala26=
ENST00000427769.5:c.113G>A	ENSP00000406295.1:p.Arg38Gln
ENST00000429925.5:c.113G>A	ENSP00000412697.1:p.Arg38Gln
ENST00000431364.1:c.78G>A	ENSP00000391220.1:p.Ala26=
ENST00000442644.5:c.113G>A	ENSP00000411241.1:p.Arg38Gln
ENST00000474030.5:n.196G>A
NM_000312.3:c.113G>A , LRG_599t1:c.113G>A	NP_000303.1:p.Arg38Gln
XM_005263715.3:c.296G>A	XP_005263772.1:p.Arg99Gln
XM_005263716.3:c.176G>A	XP_005263773.1:p.Arg59Gln
XM_005263717.3:c.176G>A	XP_005263774.1:p.Arg59Gln
XM_005263717.4:c.176G>A	XP_005263774.1:p.Arg59Gln
XM_017004505.1:c.356G>A	XP_016859994.1:p.Arg119Gln
XM_024453002.1:c.356G>A	XP_024308770.1:p.Arg119Gln
XM_024453003.1:c.296G>A	XP_024308771.1:p.Arg99Gln
XM_024453004.1:c.296G>A	XP_024308772.1:p.Arg99Gln
XM_024453005.1:c.176G>A	XP_024308773.1:p.Arg59Gln
XM_024453006.1:c.113G>A	XP_024308774.1:p.Arg38Gln
NM_000312.4:c.113G>A MANE Select	NP_000303.1:p.Arg38Gln
NM_001375602.1:c.296G>A	NP_001362531.1:p.Arg99Gln
NM_001375603.1:c.176G>A	NP_001362532.1:p.Arg59Gln
NM_001375604.1:c.176G>A	NP_001362533.1:p.Arg59Gln
NM_001375605.1:c.113G>A	NP_001362534.1:p.Arg38Gln
NM_001375606.1:c.176G>A	NP_001362535.1:p.Arg59Gln
NM_001375607.1:c.197G>A	NP_001362536.1:p.Arg66Gln
NM_001375608.1:c.113G>A	NP_001362537.1:p.Arg38Gln
NM_001375609.1:c.89G>A	NP_001362538.1:p.Arg30Gln
NM_001375610.1:c.107G>A	NP_001362539.1:p.Arg36Gln
NM_001375611.1:c.113G>A	NP_001362540.1:p.Arg38Gln
NM_001375613.1:c.113G>A	NP_001362542.1:p.Arg38Gln