Canonical Allele Identifier: CA348405705

Gene: PROC

Linked Data

• MyVariant Identifiers: chr2:g.128186209T>G (hg19) ; chr2:g.127428633T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127428633T>G , CM000664.2:g.127428633T>G	GRCh38
NC_000002.11:g.128186209T>G , CM000664.1:g.128186209T>G	GRCh37
NC_000002.10:g.127902679T>G	NCBI36
NG_016323.1:g.15214T>G , LRG_599:g.15214T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000234071.8:c.1073T>G MANE Select	ENSP00000234071.4:p.Phe358Cys
ENST00000234071.7:c.1073T>G	ENSP00000234071.3:p.Phe358Cys
ENST00000402125.2:c.397T>G
ENST00000409048.1:c.1175T>G	ENSP00000386679.1:p.Phe392Cys
NM_000312.3:c.1073T>G , LRG_599t1:c.1073T>G	NP_000303.1:p.Phe358Cys
XM_005263715.3:c.1256T>G	XP_005263772.1:p.Phe419Cys
XM_005263716.3:c.1238T>G	XP_005263773.1:p.Phe413Cys
XM_005263717.3:c.1136T>G	XP_005263774.1:p.Phe379Cys
XR_923313.1:n.1332-369A>C
XM_005263717.4:c.1136T>G	XP_005263774.1:p.Phe379Cys
XM_017004505.1:c.1316T>G	XP_016859994.1:p.Phe439Cys
XM_024453002.1:c.1418T>G	XP_024308770.1:p.Phe473Cys
XM_024453003.1:c.1358T>G	XP_024308771.1:p.Phe453Cys
XM_024453004.1:c.1256T>G	XP_024308772.1:p.Phe419Cys
XM_024453005.1:c.1238T>G	XP_024308773.1:p.Phe413Cys
XM_024453006.1:c.1175T>G	XP_024308774.1:p.Phe392Cys
XR_001739705.1:n.3607-369A>C
XR_923313.2:n.4043-369A>C
NM_000312.4:c.1073T>G MANE Select	NP_000303.1:p.Phe358Cys
NM_001375602.1:c.1256T>G	NP_001362531.1:p.Phe419Cys
NM_001375603.1:c.1238T>G	NP_001362532.1:p.Phe413Cys
NM_001375604.1:c.1136T>G	NP_001362533.1:p.Phe379Cys
NM_001375605.1:c.1175T>G	NP_001362534.1:p.Phe392Cys
NM_001375606.1:c.1241T>G	NP_001362535.1:p.Phe414Cys
NM_001375607.1:c.1259T>G	NP_001362536.1:p.Phe420Cys
NM_001375608.1:c.1016T>G	NP_001362537.1:p.Phe339Cys
NM_001375609.1:c.1049T>G	NP_001362538.1:p.Phe350Cys
NM_001375610.1:c.1067T>G	NP_001362539.1:p.Phe356Cys
NM_001375611.1:c.1073T>G	NP_001362540.1:p.Phe358Cys
NM_001375613.1:c.1073T>G	NP_001362542.1:p.Phe358Cys