Canonical Allele Identifier: CA348405314

Gene: PROC

Linked Data

• MyVariant Identifiers: chr2:g.128186133G>C (hg19) ; chr2:g.127428557G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127428557G>C , CM000664.2:g.127428557G>C	GRCh38
NC_000002.11:g.128186133G>C , CM000664.1:g.128186133G>C	GRCh37
NC_000002.10:g.127902603G>C	NCBI36
NG_016323.1:g.15138G>C , LRG_599:g.15138G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234071.8:c.997G>C MANE Select	ENSP00000234071.4:p.Ala333Pro
ENST00000234071.7:c.997G>C	ENSP00000234071.3:p.Ala333Pro
ENST00000402125.2:c.321G>C
ENST00000409048.1:c.1099G>C	ENSP00000386679.1:p.Ala367Pro
NM_000312.3:c.997G>C , LRG_599t1:c.997G>C	NP_000303.1:p.Ala333Pro
XM_005263715.3:c.1180G>C	XP_005263772.1:p.Ala394Pro
XM_005263716.3:c.1162G>C	XP_005263773.1:p.Ala388Pro
XM_005263717.3:c.1060G>C	XP_005263774.1:p.Ala354Pro
XR_923313.1:n.1332-293C>G
XM_005263717.4:c.1060G>C	XP_005263774.1:p.Ala354Pro
XM_017004505.1:c.1240G>C	XP_016859994.1:p.Ala414Pro
XM_024453002.1:c.1342G>C	XP_024308770.1:p.Ala448Pro
XM_024453003.1:c.1282G>C	XP_024308771.1:p.Ala428Pro
XM_024453004.1:c.1180G>C	XP_024308772.1:p.Ala394Pro
XM_024453005.1:c.1162G>C	XP_024308773.1:p.Ala388Pro
XM_024453006.1:c.1099G>C	XP_024308774.1:p.Ala367Pro
XR_001739705.1:n.3607-293C>G
XR_923313.2:n.4043-293C>G
NM_000312.4:c.997G>C MANE Select	NP_000303.1:p.Ala333Pro
NM_001375602.1:c.1180G>C	NP_001362531.1:p.Ala394Pro
NM_001375603.1:c.1162G>C	NP_001362532.1:p.Ala388Pro
NM_001375604.1:c.1060G>C	NP_001362533.1:p.Ala354Pro
NM_001375605.1:c.1099G>C	NP_001362534.1:p.Ala367Pro
NM_001375606.1:c.1165G>C	NP_001362535.1:p.Ala389Pro
NM_001375607.1:c.1183G>C	NP_001362536.1:p.Ala395Pro
NM_001375608.1:c.940G>C	NP_001362537.1:p.Ala314Pro
NM_001375609.1:c.973G>C	NP_001362538.1:p.Ala325Pro
NM_001375610.1:c.991G>C	NP_001362539.1:p.Ala331Pro
NM_001375611.1:c.997G>C	NP_001362540.1:p.Ala333Pro
NM_001375613.1:c.997G>C	NP_001362542.1:p.Ala333Pro