Canonical Allele Identifier: CA348399222

Gene: PROC

Linked Data

• dbSNP Id: rs527647588
• MyVariant Identifiers: chr2:g.128180753G>A (hg19) ; chr2:g.127423177G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127423177G>A , CM000664.2:g.127423177G>A	GRCh38
NC_000002.11:g.128180753G>A , CM000664.1:g.128180753G>A	GRCh37
NC_000002.10:g.127897223G>A	NCBI36
NG_016323.1:g.9758G>A , LRG_599:g.9758G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000234071.8:c.400+6G>A MANE Select	ENSP00000234071.4:n.400+6G>A
ENST00000234071.7:c.400+6G>A	ENSP00000234071.3:n.400+6G>A
ENST00000409048.1:c.406G>A	ENSP00000386679.1:p.Gly136Arg
ENST00000419985.5:c.*212G>A	ENSP00000392606.1:n.*212G>A
ENST00000442644.5:c.400+6G>A	ENSP00000411241.1:n.400+6G>A
NM_000312.3:c.400+6G>A , LRG_599t1:c.400+6G>A	NP_000303.1:n.400+6G>A
XM_005263715.3:c.583+6G>A	XP_005263772.1:n.583+6G>A
XM_005263716.3:c.469G>A	XP_005263773.1:p.Gly157Arg
XM_005263717.3:c.463+6G>A	XP_005263774.1:n.463+6G>A
XM_005263717.4:c.463+6G>A	XP_005263774.1:n.463+6G>A
XM_017004505.1:c.643+6G>A	XP_016859994.1:n.643+6G>A
XM_024453002.1:c.649G>A	XP_024308770.1:p.Gly217Arg
XM_024453003.1:c.589G>A	XP_024308771.1:p.Gly197Arg
XM_024453004.1:c.583+6G>A	XP_024308772.1:n.583+6G>A
XM_024453005.1:c.469G>A	XP_024308773.1:p.Gly157Arg
XM_024453006.1:c.406G>A	XP_024308774.1:p.Gly136Arg
NM_000312.4:c.400+6G>A MANE Select	NP_000303.1:n.400+6G>A
NM_001375602.1:c.583+6G>A	NP_001362531.1:n.583+6G>A
NM_001375603.1:c.469G>A	NP_001362532.1:p.Gly157Arg
NM_001375604.1:c.463+6G>A	NP_001362533.1:n.463+6G>A
NM_001375605.1:c.406G>A	NP_001362534.1:p.Gly136Arg
NM_001375606.1:c.561G>A	NP_001362535.1:p.Arg187=
NM_001375607.1:c.490G>A	NP_001362536.1:p.Gly164Arg
NM_001375608.1:c.400+6G>A	NP_001362537.1:n.400+6G>A
NM_001375609.1:c.376+6G>A	NP_001362538.1:n.376+6G>A
NM_001375610.1:c.394+6G>A	NP_001362539.1:n.394+6G>A
NM_001375611.1:c.400+6G>A	NP_001362540.1:n.400+6G>A
NM_001375613.1:c.400+6G>A	NP_001362542.1:n.400+6G>A