Canonical Allele Identifier: CA348405577

Gene: PROC

Linked Data

• COSMIC: COSM1399230
• MyVariant Identifiers: chr2:g.128186171C>A (hg19) ; chr2:g.127428595C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127428595C>A , CM000664.2:g.127428595C>A	GRCh38
NC_000002.11:g.128186171C>A , CM000664.1:g.128186171C>A	GRCh37
NC_000002.10:g.127902641C>A	NCBI36
NG_016323.1:g.15176C>A , LRG_599:g.15176C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234071.8:c.1035C>A MANE Select	ENSP00000234071.4:p.His345Gln
ENST00000234071.7:c.1035C>A	ENSP00000234071.3:p.His345Gln
ENST00000402125.2:c.359C>A
ENST00000409048.1:c.1137C>A	ENSP00000386679.1:p.His379Gln
NM_000312.3:c.1035C>A , LRG_599t1:c.1035C>A	NP_000303.1:p.His345Gln
XM_005263715.3:c.1218C>A	XP_005263772.1:p.His406Gln
XM_005263716.3:c.1200C>A	XP_005263773.1:p.His400Gln
XM_005263717.3:c.1098C>A	XP_005263774.1:p.His366Gln
XR_923313.1:n.1332-331G>T
XM_005263717.4:c.1098C>A	XP_005263774.1:p.His366Gln
XM_017004505.1:c.1278C>A	XP_016859994.1:p.His426Gln
XM_024453002.1:c.1380C>A	XP_024308770.1:p.His460Gln
XM_024453003.1:c.1320C>A	XP_024308771.1:p.His440Gln
XM_024453004.1:c.1218C>A	XP_024308772.1:p.His406Gln
XM_024453005.1:c.1200C>A	XP_024308773.1:p.His400Gln
XM_024453006.1:c.1137C>A	XP_024308774.1:p.His379Gln
XR_001739705.1:n.3607-331G>T
XR_923313.2:n.4043-331G>T
NM_000312.4:c.1035C>A MANE Select	NP_000303.1:p.His345Gln
NM_001375602.1:c.1218C>A	NP_001362531.1:p.His406Gln
NM_001375603.1:c.1200C>A	NP_001362532.1:p.His400Gln
NM_001375604.1:c.1098C>A	NP_001362533.1:p.His366Gln
NM_001375605.1:c.1137C>A	NP_001362534.1:p.His379Gln
NM_001375606.1:c.1203C>A	NP_001362535.1:p.His401Gln
NM_001375607.1:c.1221C>A	NP_001362536.1:p.His407Gln
NM_001375608.1:c.978C>A	NP_001362537.1:p.His326Gln
NM_001375609.1:c.1011C>A	NP_001362538.1:p.His337Gln
NM_001375610.1:c.1029C>A	NP_001362539.1:p.His343Gln
NM_001375611.1:c.1035C>A	NP_001362540.1:p.His345Gln
NM_001375613.1:c.1035C>A	NP_001362542.1:p.His345Gln