Canonical Allele Identifier: CA348405854

Gene: PROC

Linked Data

• gnomAD v4: 2-127428675-A-T
• MyVariant Identifiers: chr2:g.128186251A>T (hg19) ; chr2:g.127428675A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127428675A>T , CM000664.2:g.127428675A>T	GRCh38
NC_000002.11:g.128186251A>T , CM000664.1:g.128186251A>T	GRCh37
NC_000002.10:g.127902721A>T	NCBI36
NG_016323.1:g.15256A>T , LRG_599:g.15256A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234071.8:c.1115A>T MANE Select	ENSP00000234071.4:p.Glu372Val
ENST00000234071.7:c.1115A>T	ENSP00000234071.3:p.Glu372Val
ENST00000402125.2:c.439A>T
ENST00000409048.1:c.1217A>T	ENSP00000386679.1:p.Glu406Val
NM_000312.3:c.1115A>T , LRG_599t1:c.1115A>T	NP_000303.1:p.Glu372Val
XM_005263715.3:c.1298A>T	XP_005263772.1:p.Glu433Val
XM_005263716.3:c.1280A>T	XP_005263773.1:p.Glu427Val
XM_005263717.3:c.1178A>T	XP_005263774.1:p.Glu393Val
XR_923313.1:n.1332-411T>A
XM_005263717.4:c.1178A>T	XP_005263774.1:p.Glu393Val
XM_017004505.1:c.1358A>T	XP_016859994.1:p.Glu453Val
XM_024453002.1:c.1460A>T	XP_024308770.1:p.Glu487Val
XM_024453003.1:c.1400A>T	XP_024308771.1:p.Glu467Val
XM_024453004.1:c.1298A>T	XP_024308772.1:p.Glu433Val
XM_024453005.1:c.1280A>T	XP_024308773.1:p.Glu427Val
XM_024453006.1:c.1217A>T	XP_024308774.1:p.Glu406Val
XR_001739705.1:n.3607-411T>A
XR_923313.2:n.4043-411T>A
NM_000312.4:c.1115A>T MANE Select	NP_000303.1:p.Glu372Val
NM_001375602.1:c.1298A>T	NP_001362531.1:p.Glu433Val
NM_001375603.1:c.1280A>T	NP_001362532.1:p.Glu427Val
NM_001375604.1:c.1178A>T	NP_001362533.1:p.Glu393Val
NM_001375605.1:c.1217A>T	NP_001362534.1:p.Glu406Val
NM_001375606.1:c.1283A>T	NP_001362535.1:p.Glu428Val
NM_001375607.1:c.1301A>T	NP_001362536.1:p.Glu434Val
NM_001375608.1:c.1058A>T	NP_001362537.1:p.Glu353Val
NM_001375609.1:c.1091A>T	NP_001362538.1:p.Glu364Val
NM_001375610.1:c.1109A>T	NP_001362539.1:p.Glu370Val
NM_001375611.1:c.1115A>T	NP_001362540.1:p.Glu372Val
NM_001375613.1:c.1115A>T	NP_001362542.1:p.Glu372Val