Canonical Allele Identifier: CA348401147

Gene: PROC

Linked Data

• MyVariant Identifiers: chr2:g.128183697A>T (hg19) ; chr2:g.127426121A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127426121A>T , CM000664.2:g.127426121A>T	GRCh38
NC_000002.11:g.128183697A>T , CM000664.1:g.128183697A>T	GRCh37
NC_000002.10:g.127900167A>T	NCBI36
NG_016323.1:g.12702A>T , LRG_599:g.12702A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234071.8:c.572A>T MANE Select	ENSP00000234071.4:p.Glu191Val
ENST00000234071.7:c.572A>T	ENSP00000234071.3:p.Glu191Val
ENST00000402125.2:c.121-2236A>T
ENST00000409048.1:c.674A>T	ENSP00000386679.1:p.Glu225Val
ENST00000442644.5:c.515A>T	ENSP00000411241.1:p.Glu172Val
ENST00000464089.1:n.158A>T
NM_000312.3:c.572A>T , LRG_599t1:c.572A>T	NP_000303.1:p.Glu191Val
XM_005263715.3:c.755A>T	XP_005263772.1:p.Glu252Val
XM_005263716.3:c.737A>T	XP_005263773.1:p.Glu246Val
XM_005263717.3:c.635A>T	XP_005263774.1:p.Glu212Val
XM_005263717.4:c.635A>T	XP_005263774.1:p.Glu212Val
XM_017004505.1:c.815A>T	XP_016859994.1:p.Glu272Val
XM_024453002.1:c.917A>T	XP_024308770.1:p.Glu306Val
XM_024453003.1:c.857A>T	XP_024308771.1:p.Glu286Val
XM_024453004.1:c.755A>T	XP_024308772.1:p.Glu252Val
XM_024453005.1:c.737A>T	XP_024308773.1:p.Glu246Val
XM_024453006.1:c.674A>T	XP_024308774.1:p.Glu225Val
XR_923313.2:n.4464T>A
NM_000312.4:c.572A>T MANE Select	NP_000303.1:p.Glu191Val
NM_001375602.1:c.755A>T	NP_001362531.1:p.Glu252Val
NM_001375603.1:c.737A>T	NP_001362532.1:p.Glu246Val
NM_001375604.1:c.635A>T	NP_001362533.1:p.Glu212Val
NM_001375605.1:c.674A>T	NP_001362534.1:p.Glu225Val
NM_001375606.1:c.740A>T	NP_001362535.1:p.Glu247Val
NM_001375607.1:c.758A>T	NP_001362536.1:p.Glu253Val
NM_001375608.1:c.515A>T	NP_001362537.1:p.Glu172Val
NM_001375609.1:c.548A>T	NP_001362538.1:p.Glu183Val
NM_001375610.1:c.566A>T	NP_001362539.1:p.Glu189Val
NM_001375611.1:c.572A>T	NP_001362540.1:p.Glu191Val
NM_001375613.1:c.572A>T	NP_001362542.1:p.Glu191Val