Canonical Allele Identifier: CA1859468

Gene: PROC

Linked Data

• dbSNP Id: rs757001092
• ExAC: 2:128185968 C / G
• gnomAD v2: 2-128185968-C-G
• gnomAD v3: 2-127428392-C-G
• gnomAD v4: 2-127428392-C-G
• MyVariant Identifiers: chr2:g.128185968C>G (hg19) ; chr2:g.127428392C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127428392C>G , CM000664.2:g.127428392C>G	GRCh38
NC_000002.11:g.128185968C>G , CM000664.1:g.128185968C>G	GRCh37
NC_000002.10:g.127902438C>G	NCBI36
NG_016323.1:g.14973C>G , LRG_599:g.14973C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234071.8:c.832C>G MANE Select	ENSP00000234071.4:p.Leu278Val
ENST00000234071.7:c.832C>G	ENSP00000234071.3:p.Leu278Val
ENST00000402125.2:c.156C>G
ENST00000409048.1:c.934C>G	ENSP00000386679.1:p.Leu312Val
NM_000312.3:c.832C>G , LRG_599t1:c.832C>G	NP_000303.1:p.Leu278Val
XM_005263715.3:c.1015C>G	XP_005263772.1:p.Leu339Val
XM_005263716.3:c.997C>G	XP_005263773.1:p.Leu333Val
XM_005263717.3:c.895C>G	XP_005263774.1:p.Leu299Val
XR_923313.1:n.1332-128G>C
XM_005263717.4:c.895C>G	XP_005263774.1:p.Leu299Val
XM_017004505.1:c.1075C>G	XP_016859994.1:p.Leu359Val
XM_024453002.1:c.1177C>G	XP_024308770.1:p.Leu393Val
XM_024453003.1:c.1117C>G	XP_024308771.1:p.Leu373Val
XM_024453004.1:c.1015C>G	XP_024308772.1:p.Leu339Val
XM_024453005.1:c.997C>G	XP_024308773.1:p.Leu333Val
XM_024453006.1:c.934C>G	XP_024308774.1:p.Leu312Val
XR_001739705.1:n.3607-128G>C
XR_923313.2:n.4043-128G>C
NM_000312.4:c.832C>G MANE Select	NP_000303.1:p.Leu278Val
NM_001375602.1:c.1015C>G	NP_001362531.1:p.Leu339Val
NM_001375603.1:c.997C>G	NP_001362532.1:p.Leu333Val
NM_001375604.1:c.895C>G	NP_001362533.1:p.Leu299Val
NM_001375605.1:c.934C>G	NP_001362534.1:p.Leu312Val
NM_001375606.1:c.1000C>G	NP_001362535.1:p.Leu334Val
NM_001375607.1:c.1018C>G	NP_001362536.1:p.Leu340Val
NM_001375608.1:c.775C>G	NP_001362537.1:p.Leu259Val
NM_001375609.1:c.808C>G	NP_001362538.1:p.Leu270Val
NM_001375610.1:c.826C>G	NP_001362539.1:p.Leu276Val
NM_001375611.1:c.832C>G	NP_001362540.1:p.Leu278Val
NM_001375613.1:c.832C>G	NP_001362542.1:p.Leu278Val