Canonical Allele Identifier: CA348405781

Gene: PROC

Linked Data

• MyVariant Identifiers: chr2:g.128186233C>A (hg19) ; chr2:g.127428657C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127428657C>A , CM000664.2:g.127428657C>A	GRCh38
NC_000002.11:g.128186233C>A , CM000664.1:g.128186233C>A	GRCh37
NC_000002.10:g.127902703C>A	NCBI36
NG_016323.1:g.15238C>A , LRG_599:g.15238C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234071.8:c.1097C>A MANE Select	ENSP00000234071.4:p.Pro366His
ENST00000234071.7:c.1097C>A	ENSP00000234071.3:p.Pro366His
ENST00000402125.2:c.421C>A
ENST00000409048.1:c.1199C>A	ENSP00000386679.1:p.Pro400His
NM_000312.3:c.1097C>A , LRG_599t1:c.1097C>A	NP_000303.1:p.Pro366His
XM_005263715.3:c.1280C>A	XP_005263772.1:p.Pro427His
XM_005263716.3:c.1262C>A	XP_005263773.1:p.Pro421His
XM_005263717.3:c.1160C>A	XP_005263774.1:p.Pro387His
XR_923313.1:n.1332-393G>T
XM_005263717.4:c.1160C>A	XP_005263774.1:p.Pro387His
XM_017004505.1:c.1340C>A	XP_016859994.1:p.Pro447His
XM_024453002.1:c.1442C>A	XP_024308770.1:p.Pro481His
XM_024453003.1:c.1382C>A	XP_024308771.1:p.Pro461His
XM_024453004.1:c.1280C>A	XP_024308772.1:p.Pro427His
XM_024453005.1:c.1262C>A	XP_024308773.1:p.Pro421His
XM_024453006.1:c.1199C>A	XP_024308774.1:p.Pro400His
XR_001739705.1:n.3607-393G>T
XR_923313.2:n.4043-393G>T
NM_000312.4:c.1097C>A MANE Select	NP_000303.1:p.Pro366His
NM_001375602.1:c.1280C>A	NP_001362531.1:p.Pro427His
NM_001375603.1:c.1262C>A	NP_001362532.1:p.Pro421His
NM_001375604.1:c.1160C>A	NP_001362533.1:p.Pro387His
NM_001375605.1:c.1199C>A	NP_001362534.1:p.Pro400His
NM_001375606.1:c.1265C>A	NP_001362535.1:p.Pro422His
NM_001375607.1:c.1283C>A	NP_001362536.1:p.Pro428His
NM_001375608.1:c.1040C>A	NP_001362537.1:p.Pro347His
NM_001375609.1:c.1073C>A	NP_001362538.1:p.Pro358His
NM_001375610.1:c.1091C>A	NP_001362539.1:p.Pro364His
NM_001375611.1:c.1097C>A	NP_001362540.1:p.Pro366His
NM_001375613.1:c.1097C>A	NP_001362542.1:p.Pro366His