Canonical Allele Identifier: CA348405569

Gene: PROC

Linked Data

• MyVariant Identifiers: chr2:g.128186169C>T (hg19) ; chr2:g.127428593C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127428593C>T , CM000664.2:g.127428593C>T	GRCh38
NC_000002.11:g.128186169C>T , CM000664.1:g.128186169C>T	GRCh37
NC_000002.10:g.127902639C>T	NCBI36
NG_016323.1:g.15174C>T , LRG_599:g.15174C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234071.8:c.1033C>T MANE Select	ENSP00000234071.4:p.His345Tyr
ENST00000234071.7:c.1033C>T	ENSP00000234071.3:p.His345Tyr
ENST00000402125.2:c.357C>T
ENST00000409048.1:c.1135C>T	ENSP00000386679.1:p.His379Tyr
NM_000312.3:c.1033C>T , LRG_599t1:c.1033C>T	NP_000303.1:p.His345Tyr
XM_005263715.3:c.1216C>T	XP_005263772.1:p.His406Tyr
XM_005263716.3:c.1198C>T	XP_005263773.1:p.His400Tyr
XM_005263717.3:c.1096C>T	XP_005263774.1:p.His366Tyr
XR_923313.1:n.1332-329G>A
XM_005263717.4:c.1096C>T	XP_005263774.1:p.His366Tyr
XM_017004505.1:c.1276C>T	XP_016859994.1:p.His426Tyr
XM_024453002.1:c.1378C>T	XP_024308770.1:p.His460Tyr
XM_024453003.1:c.1318C>T	XP_024308771.1:p.His440Tyr
XM_024453004.1:c.1216C>T	XP_024308772.1:p.His406Tyr
XM_024453005.1:c.1198C>T	XP_024308773.1:p.His400Tyr
XM_024453006.1:c.1135C>T	XP_024308774.1:p.His379Tyr
XR_001739705.1:n.3607-329G>A
XR_923313.2:n.4043-329G>A
NM_000312.4:c.1033C>T MANE Select	NP_000303.1:p.His345Tyr
NM_001375602.1:c.1216C>T	NP_001362531.1:p.His406Tyr
NM_001375603.1:c.1198C>T	NP_001362532.1:p.His400Tyr
NM_001375604.1:c.1096C>T	NP_001362533.1:p.His366Tyr
NM_001375605.1:c.1135C>T	NP_001362534.1:p.His379Tyr
NM_001375606.1:c.1201C>T	NP_001362535.1:p.His401Tyr
NM_001375607.1:c.1219C>T	NP_001362536.1:p.His407Tyr
NM_001375608.1:c.976C>T	NP_001362537.1:p.His326Tyr
NM_001375609.1:c.1009C>T	NP_001362538.1:p.His337Tyr
NM_001375610.1:c.1027C>T	NP_001362539.1:p.His343Tyr
NM_001375611.1:c.1033C>T	NP_001362540.1:p.His345Tyr
NM_001375613.1:c.1033C>T	NP_001362542.1:p.His345Tyr