Canonical Allele Identifier: CA348404450

Gene: PROC

Linked Data

• MyVariant Identifiers: chr2:g.128185986G>C (hg19) ; chr2:g.127428410G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127428410G>C , CM000664.2:g.127428410G>C	GRCh38
NC_000002.11:g.128185986G>C , CM000664.1:g.128185986G>C	GRCh37
NC_000002.10:g.127902456G>C	NCBI36
NG_016323.1:g.14991G>C , LRG_599:g.14991G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234071.8:c.850G>C MANE Select	ENSP00000234071.4:p.Glu284Gln
ENST00000234071.7:c.850G>C	ENSP00000234071.3:p.Glu284Gln
ENST00000402125.2:c.174G>C
ENST00000409048.1:c.952G>C	ENSP00000386679.1:p.Glu318Gln
NM_000312.3:c.850G>C , LRG_599t1:c.850G>C	NP_000303.1:p.Glu284Gln
XM_005263715.3:c.1033G>C	XP_005263772.1:p.Glu345Gln
XM_005263716.3:c.1015G>C	XP_005263773.1:p.Glu339Gln
XM_005263717.3:c.913G>C	XP_005263774.1:p.Glu305Gln
XR_923313.1:n.1332-146C>G
XM_005263717.4:c.913G>C	XP_005263774.1:p.Glu305Gln
XM_017004505.1:c.1093G>C	XP_016859994.1:p.Glu365Gln
XM_024453002.1:c.1195G>C	XP_024308770.1:p.Glu399Gln
XM_024453003.1:c.1135G>C	XP_024308771.1:p.Glu379Gln
XM_024453004.1:c.1033G>C	XP_024308772.1:p.Glu345Gln
XM_024453005.1:c.1015G>C	XP_024308773.1:p.Glu339Gln
XM_024453006.1:c.952G>C	XP_024308774.1:p.Glu318Gln
XR_001739705.1:n.3607-146C>G
XR_923313.2:n.4043-146C>G
NM_000312.4:c.850G>C MANE Select	NP_000303.1:p.Glu284Gln
NM_001375602.1:c.1033G>C	NP_001362531.1:p.Glu345Gln
NM_001375603.1:c.1015G>C	NP_001362532.1:p.Glu339Gln
NM_001375604.1:c.913G>C	NP_001362533.1:p.Glu305Gln
NM_001375605.1:c.952G>C	NP_001362534.1:p.Glu318Gln
NM_001375606.1:c.1018G>C	NP_001362535.1:p.Glu340Gln
NM_001375607.1:c.1036G>C	NP_001362536.1:p.Glu346Gln
NM_001375608.1:c.793G>C	NP_001362537.1:p.Glu265Gln
NM_001375609.1:c.826G>C	NP_001362538.1:p.Glu276Gln
NM_001375610.1:c.844G>C	NP_001362539.1:p.Glu282Gln
NM_001375611.1:c.850G>C	NP_001362540.1:p.Glu284Gln
NM_001375613.1:c.850G>C	NP_001362542.1:p.Glu284Gln