Canonical Allele Identifier: CA348401151

Gene: PROC

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234071.8:c.572A>C MANE Select	ENSP00000234071.4:p.Glu191Ala
ENST00000234071.7:c.572A>C	ENSP00000234071.3:p.Glu191Ala
ENST00000402125.2:c.121-2236A>C
ENST00000409048.1:c.674A>C	ENSP00000386679.1:p.Glu225Ala
ENST00000442644.5:c.515A>C	ENSP00000411241.1:p.Glu172Ala
ENST00000464089.1:n.158A>C
NM_000312.3:c.572A>C , LRG_599t1:c.572A>C	NP_000303.1:p.Glu191Ala
XM_005263715.3:c.755A>C	XP_005263772.1:p.Glu252Ala
XM_005263716.3:c.737A>C	XP_005263773.1:p.Glu246Ala
XM_005263717.3:c.635A>C	XP_005263774.1:p.Glu212Ala
XM_005263717.4:c.635A>C	XP_005263774.1:p.Glu212Ala
XM_017004505.1:c.815A>C	XP_016859994.1:p.Glu272Ala
XM_024453002.1:c.917A>C	XP_024308770.1:p.Glu306Ala
XM_024453003.1:c.857A>C	XP_024308771.1:p.Glu286Ala
XM_024453004.1:c.755A>C	XP_024308772.1:p.Glu252Ala
XM_024453005.1:c.737A>C	XP_024308773.1:p.Glu246Ala
XM_024453006.1:c.674A>C	XP_024308774.1:p.Glu225Ala
XR_923313.2:n.4464T>G
NM_000312.4:c.572A>C MANE Select	NP_000303.1:p.Glu191Ala
NM_001375602.1:c.755A>C	NP_001362531.1:p.Glu252Ala
NM_001375603.1:c.737A>C	NP_001362532.1:p.Glu246Ala
NM_001375604.1:c.635A>C	NP_001362533.1:p.Glu212Ala
NM_001375605.1:c.674A>C	NP_001362534.1:p.Glu225Ala
NM_001375606.1:c.740A>C	NP_001362535.1:p.Glu247Ala
NM_001375607.1:c.758A>C	NP_001362536.1:p.Glu253Ala
NM_001375608.1:c.515A>C	NP_001362537.1:p.Glu172Ala
NM_001375609.1:c.548A>C	NP_001362538.1:p.Glu183Ala
NM_001375610.1:c.566A>C	NP_001362539.1:p.Glu189Ala
NM_001375611.1:c.572A>C	NP_001362540.1:p.Glu191Ala
NM_001375613.1:c.572A>C	NP_001362542.1:p.Glu191Ala