Canonical Allele Identifier: CA348406194

Gene: PROC

Linked Data

• MyVariant Identifiers: chr2:g.128186328T>G (hg19) ; chr2:g.127428752T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127428752T>G , CM000664.2:g.127428752T>G	GRCh38
NC_000002.11:g.128186328T>G , CM000664.1:g.128186328T>G	GRCh37
NC_000002.10:g.127902798T>G	NCBI36
NG_016323.1:g.15333T>G , LRG_599:g.15333T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234071.8:c.1192T>G MANE Select	ENSP00000234071.4:p.Cys398Gly
ENST00000234071.7:c.1192T>G	ENSP00000234071.3:p.Cys398Gly
ENST00000402125.2:c.516T>G
ENST00000409048.1:c.1294T>G	ENSP00000386679.1:p.Cys432Gly
NM_000312.3:c.1192T>G , LRG_599t1:c.1192T>G	NP_000303.1:p.Cys398Gly
XM_005263715.3:c.1375T>G	XP_005263772.1:p.Cys459Gly
XM_005263716.3:c.1357T>G	XP_005263773.1:p.Cys453Gly
XM_005263717.3:c.1255T>G	XP_005263774.1:p.Cys419Gly
XR_923313.1:n.1332-488A>C
XM_005263717.4:c.1255T>G	XP_005263774.1:p.Cys419Gly
XM_017004505.1:c.1435T>G	XP_016859994.1:p.Cys479Gly
XM_024453002.1:c.1537T>G	XP_024308770.1:p.Cys513Gly
XM_024453003.1:c.1477T>G	XP_024308771.1:p.Cys493Gly
XM_024453004.1:c.1375T>G	XP_024308772.1:p.Cys459Gly
XM_024453005.1:c.1357T>G	XP_024308773.1:p.Cys453Gly
XM_024453006.1:c.1294T>G	XP_024308774.1:p.Cys432Gly
XR_001739705.1:n.3607-488A>C
XR_923313.2:n.4043-488A>C
NM_000312.4:c.1192T>G MANE Select	NP_000303.1:p.Cys398Gly
NM_001375602.1:c.1375T>G	NP_001362531.1:p.Cys459Gly
NM_001375603.1:c.1357T>G	NP_001362532.1:p.Cys453Gly
NM_001375604.1:c.1255T>G	NP_001362533.1:p.Cys419Gly
NM_001375605.1:c.1294T>G	NP_001362534.1:p.Cys432Gly
NM_001375606.1:c.1360T>G	NP_001362535.1:p.Cys454Gly
NM_001375607.1:c.1378T>G	NP_001362536.1:p.Cys460Gly
NM_001375608.1:c.1135T>G	NP_001362537.1:p.Cys379Gly
NM_001375609.1:c.1168T>G	NP_001362538.1:p.Cys390Gly
NM_001375610.1:c.1186T>G	NP_001362539.1:p.Cys396Gly
NM_001375611.1:c.1192T>G	NP_001362540.1:p.Cys398Gly
NM_001375613.1:c.1192T>G	NP_001362542.1:p.Cys398Gly