Canonical Allele Identifier: CA348406197

Gene: PROC

Linked Data

• MyVariant Identifiers: chr2:g.128186329G>A (hg19) ; chr2:g.127428753G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127428753G>A , CM000664.2:g.127428753G>A	GRCh38
NC_000002.11:g.128186329G>A , CM000664.1:g.128186329G>A	GRCh37
NC_000002.10:g.127902799G>A	NCBI36
NG_016323.1:g.15334G>A , LRG_599:g.15334G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234071.8:c.1193G>A MANE Select	ENSP00000234071.4:p.Cys398Tyr
ENST00000234071.7:c.1193G>A	ENSP00000234071.3:p.Cys398Tyr
ENST00000402125.2:c.517G>A
ENST00000409048.1:c.1295G>A	ENSP00000386679.1:p.Cys432Tyr
NM_000312.3:c.1193G>A , LRG_599t1:c.1193G>A	NP_000303.1:p.Cys398Tyr
XM_005263715.3:c.1376G>A	XP_005263772.1:p.Cys459Tyr
XM_005263716.3:c.1358G>A	XP_005263773.1:p.Cys453Tyr
XM_005263717.3:c.1256G>A	XP_005263774.1:p.Cys419Tyr
XR_923313.1:n.1332-489C>T
XM_005263717.4:c.1256G>A	XP_005263774.1:p.Cys419Tyr
XM_017004505.1:c.1436G>A	XP_016859994.1:p.Cys479Tyr
XM_024453002.1:c.1538G>A	XP_024308770.1:p.Cys513Tyr
XM_024453003.1:c.1478G>A	XP_024308771.1:p.Cys493Tyr
XM_024453004.1:c.1376G>A	XP_024308772.1:p.Cys459Tyr
XM_024453005.1:c.1358G>A	XP_024308773.1:p.Cys453Tyr
XM_024453006.1:c.1295G>A	XP_024308774.1:p.Cys432Tyr
XR_001739705.1:n.3607-489C>T
XR_923313.2:n.4043-489C>T
NM_000312.4:c.1193G>A MANE Select	NP_000303.1:p.Cys398Tyr
NM_001375602.1:c.1376G>A	NP_001362531.1:p.Cys459Tyr
NM_001375603.1:c.1358G>A	NP_001362532.1:p.Cys453Tyr
NM_001375604.1:c.1256G>A	NP_001362533.1:p.Cys419Tyr
NM_001375605.1:c.1295G>A	NP_001362534.1:p.Cys432Tyr
NM_001375606.1:c.1361G>A	NP_001362535.1:p.Cys454Tyr
NM_001375607.1:c.1379G>A	NP_001362536.1:p.Cys460Tyr
NM_001375608.1:c.1136G>A	NP_001362537.1:p.Cys379Tyr
NM_001375609.1:c.1169G>A	NP_001362538.1:p.Cys390Tyr
NM_001375610.1:c.1187G>A	NP_001362539.1:p.Cys396Tyr
NM_001375611.1:c.1193G>A	NP_001362540.1:p.Cys398Tyr
NM_001375613.1:c.1193G>A	NP_001362542.1:p.Cys398Tyr