Canonical Allele Identifier: CA348406648

Gene: PROC

Linked Data

• gnomAD v4: 2-127428875-A-G
• MyVariant Identifiers: chr2:g.128186451A>G (hg19) ; chr2:g.127428875A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127428875A>G , CM000664.2:g.127428875A>G	GRCh38
NC_000002.11:g.128186451A>G , CM000664.1:g.128186451A>G	GRCh37
NC_000002.10:g.127902921A>G	NCBI36
NG_016323.1:g.15456A>G , LRG_599:g.15456A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234071.8:c.1315A>G MANE Select	ENSP00000234071.4:p.Ser439Gly
ENST00000234071.7:c.1315A>G	ENSP00000234071.3:p.Ser439Gly
ENST00000402125.2:c.639A>G
ENST00000409048.1:c.1417A>G	ENSP00000386679.1:p.Ser473Gly
NM_000312.3:c.1315A>G , LRG_599t1:c.1315A>G	NP_000303.1:p.Ser439Gly
XM_005263715.3:c.1498A>G	XP_005263772.1:p.Ser500Gly
XM_005263716.3:c.1480A>G	XP_005263773.1:p.Ser494Gly
XM_005263717.3:c.1378A>G	XP_005263774.1:p.Ser460Gly
XR_923313.1:n.1332-611T>C
XM_005263717.4:c.1378A>G	XP_005263774.1:p.Ser460Gly
XM_017004505.1:c.1558A>G	XP_016859994.1:p.Ser520Gly
XM_024453002.1:c.1660A>G	XP_024308770.1:p.Ser554Gly
XM_024453003.1:c.1600A>G	XP_024308771.1:p.Ser534Gly
XM_024453004.1:c.1498A>G	XP_024308772.1:p.Ser500Gly
XM_024453005.1:c.1480A>G	XP_024308773.1:p.Ser494Gly
XM_024453006.1:c.1417A>G	XP_024308774.1:p.Ser473Gly
XR_001739705.1:n.3607-611T>C
XR_923313.2:n.4043-611T>C
NM_000312.4:c.1315A>G MANE Select	NP_000303.1:p.Ser439Gly
NM_001375602.1:c.1498A>G	NP_001362531.1:p.Ser500Gly
NM_001375603.1:c.1480A>G	NP_001362532.1:p.Ser494Gly
NM_001375604.1:c.1378A>G	NP_001362533.1:p.Ser460Gly
NM_001375605.1:c.1417A>G	NP_001362534.1:p.Ser473Gly
NM_001375606.1:c.1483A>G	NP_001362535.1:p.Ser495Gly
NM_001375607.1:c.1501A>G	NP_001362536.1:p.Ser501Gly
NM_001375608.1:c.1258A>G	NP_001362537.1:p.Ser420Gly
NM_001375609.1:c.1291A>G	NP_001362538.1:p.Ser431Gly
NM_001375610.1:c.1309A>G	NP_001362539.1:p.Ser437Gly
NM_001375611.1:c.1315A>G	NP_001362540.1:p.Ser439Gly
NM_001375613.1:c.1315A>G	NP_001362542.1:p.Ser439Gly