Canonical Allele Identifier: CA348404950

Gene: PROC

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127428495C>A , CM000664.2:g.127428495C>A	GRCh38
NC_000002.11:g.128186071C>A , CM000664.1:g.128186071C>A	GRCh37
NC_000002.10:g.127902541C>A	NCBI36
NG_016323.1:g.15076C>A , LRG_599:g.15076C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000312.4:c.935C>A MANE Select	NP_000303.1:p.Ser312Ter
ENST00000234071.8:c.935C>A MANE Select	ENSP00000234071.4:p.Ser312Ter
NM_000312.3:c.935C>A , LRG_599t1:c.935C>A	NP_000303.1:p.Ser312Ter
NM_001375602.1:c.1118C>A	NP_001362531.1:p.Ser373Ter
NM_001375603.1:c.1100C>A	NP_001362532.1:p.Ser367Ter
NM_001375604.1:c.998C>A	NP_001362533.1:p.Ser333Ter
NM_001375605.1:c.1037C>A	NP_001362534.1:p.Ser346Ter
NM_001375606.1:c.1103C>A	NP_001362535.1:p.Ser368Ter
NM_001375607.1:c.1121C>A	NP_001362536.1:p.Ser374Ter
NM_001375608.1:c.878C>A	NP_001362537.1:p.Ser293Ter
NM_001375609.1:c.911C>A	NP_001362538.1:p.Ser304Ter
NM_001375610.1:c.929C>A	NP_001362539.1:p.Ser310Ter
NM_001375611.1:c.935C>A	NP_001362540.1:p.Ser312Ter
NM_001375613.1:c.935C>A	NP_001362542.1:p.Ser312Ter
ENST00000234071.7:c.935C>A	ENSP00000234071.3:p.Ser312Ter
ENST00000402125.2:c.259C>A
ENST00000409048.1:c.1037C>A	ENSP00000386679.1:p.Ser346Ter
XM_005263715.3:c.1118C>A	XP_005263772.1:p.Ser373Ter
XM_005263716.3:c.1100C>A	XP_005263773.1:p.Ser367Ter
XM_005263717.3:c.998C>A	XP_005263774.1:p.Ser333Ter
XM_005263717.4:c.998C>A	XP_005263774.1:p.Ser333Ter
XM_017004505.1:c.1178C>A	XP_016859994.1:p.Ser393Ter
XM_024453002.1:c.1280C>A	XP_024308770.1:p.Ser427Ter
XM_024453003.1:c.1220C>A	XP_024308771.1:p.Ser407Ter
XM_024453004.1:c.1118C>A	XP_024308772.1:p.Ser373Ter
XM_024453005.1:c.1100C>A	XP_024308773.1:p.Ser367Ter
XM_024453006.1:c.1037C>A	XP_024308774.1:p.Ser346Ter
XR_001739705.1:n.3607-231G>T
XR_923313.1:n.1332-231G>T
XR_923313.2:n.4043-231G>T