Canonical Allele Identifier: CA348406174

Gene: PROC

Linked Data

• MyVariant Identifiers: chr2:g.128186323A>G (hg19) ; chr2:g.127428747A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127428747A>G , CM000664.2:g.127428747A>G	GRCh38
NC_000002.11:g.128186323A>G , CM000664.1:g.128186323A>G	GRCh37
NC_000002.10:g.127902793A>G	NCBI36
NG_016323.1:g.15328A>G , LRG_599:g.15328A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234071.8:c.1187A>G MANE Select	ENSP00000234071.4:p.Asp396Gly
ENST00000234071.7:c.1187A>G	ENSP00000234071.3:p.Asp396Gly
ENST00000402125.2:c.511A>G
ENST00000409048.1:c.1289A>G	ENSP00000386679.1:p.Asp430Gly
NM_000312.3:c.1187A>G , LRG_599t1:c.1187A>G	NP_000303.1:p.Asp396Gly
XM_005263715.3:c.1370A>G	XP_005263772.1:p.Asp457Gly
XM_005263716.3:c.1352A>G	XP_005263773.1:p.Asp451Gly
XM_005263717.3:c.1250A>G	XP_005263774.1:p.Asp417Gly
XR_923313.1:n.1332-483T>C
XM_005263717.4:c.1250A>G	XP_005263774.1:p.Asp417Gly
XM_017004505.1:c.1430A>G	XP_016859994.1:p.Asp477Gly
XM_024453002.1:c.1532A>G	XP_024308770.1:p.Asp511Gly
XM_024453003.1:c.1472A>G	XP_024308771.1:p.Asp491Gly
XM_024453004.1:c.1370A>G	XP_024308772.1:p.Asp457Gly
XM_024453005.1:c.1352A>G	XP_024308773.1:p.Asp451Gly
XM_024453006.1:c.1289A>G	XP_024308774.1:p.Asp430Gly
XR_001739705.1:n.3607-483T>C
XR_923313.2:n.4043-483T>C
NM_000312.4:c.1187A>G MANE Select	NP_000303.1:p.Asp396Gly
NM_001375602.1:c.1370A>G	NP_001362531.1:p.Asp457Gly
NM_001375603.1:c.1352A>G	NP_001362532.1:p.Asp451Gly
NM_001375604.1:c.1250A>G	NP_001362533.1:p.Asp417Gly
NM_001375605.1:c.1289A>G	NP_001362534.1:p.Asp430Gly
NM_001375606.1:c.1355A>G	NP_001362535.1:p.Asp452Gly
NM_001375607.1:c.1373A>G	NP_001362536.1:p.Asp458Gly
NM_001375608.1:c.1130A>G	NP_001362537.1:p.Asp377Gly
NM_001375609.1:c.1163A>G	NP_001362538.1:p.Asp388Gly
NM_001375610.1:c.1181A>G	NP_001362539.1:p.Asp394Gly
NM_001375611.1:c.1187A>G	NP_001362540.1:p.Asp396Gly
NM_001375613.1:c.1187A>G	NP_001362542.1:p.Asp396Gly