Canonical Allele Identifier: CA348405899

Gene: PROC

Linked Data

• gnomAD v4: 2-127428686-G-A
• MyVariant Identifiers: chr2:g.128186262G>A (hg19) ; chr2:g.127428686G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127428686G>A , CM000664.2:g.127428686G>A	GRCh38
NC_000002.11:g.128186262G>A , CM000664.1:g.128186262G>A	GRCh37
NC_000002.10:g.127902732G>A	NCBI36
NG_016323.1:g.15267G>A , LRG_599:g.15267G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234071.8:c.1126G>A MANE Select	ENSP00000234071.4:p.Val376Ile
ENST00000234071.7:c.1126G>A	ENSP00000234071.3:p.Val376Ile
ENST00000402125.2:c.450G>A
ENST00000409048.1:c.1228G>A	ENSP00000386679.1:p.Val410Ile
NM_000312.3:c.1126G>A , LRG_599t1:c.1126G>A	NP_000303.1:p.Val376Ile
XM_005263715.3:c.1309G>A	XP_005263772.1:p.Val437Ile
XM_005263716.3:c.1291G>A	XP_005263773.1:p.Val431Ile
XM_005263717.3:c.1189G>A	XP_005263774.1:p.Val397Ile
XR_923313.1:n.1332-422C>T
XM_005263717.4:c.1189G>A	XP_005263774.1:p.Val397Ile
XM_017004505.1:c.1369G>A	XP_016859994.1:p.Val457Ile
XM_024453002.1:c.1471G>A	XP_024308770.1:p.Val491Ile
XM_024453003.1:c.1411G>A	XP_024308771.1:p.Val471Ile
XM_024453004.1:c.1309G>A	XP_024308772.1:p.Val437Ile
XM_024453005.1:c.1291G>A	XP_024308773.1:p.Val431Ile
XM_024453006.1:c.1228G>A	XP_024308774.1:p.Val410Ile
XR_001739705.1:n.3607-422C>T
XR_923313.2:n.4043-422C>T
NM_000312.4:c.1126G>A MANE Select	NP_000303.1:p.Val376Ile
NM_001375602.1:c.1309G>A	NP_001362531.1:p.Val437Ile
NM_001375603.1:c.1291G>A	NP_001362532.1:p.Val431Ile
NM_001375604.1:c.1189G>A	NP_001362533.1:p.Val397Ile
NM_001375605.1:c.1228G>A	NP_001362534.1:p.Val410Ile
NM_001375606.1:c.1294G>A	NP_001362535.1:p.Val432Ile
NM_001375607.1:c.1312G>A	NP_001362536.1:p.Val438Ile
NM_001375608.1:c.1069G>A	NP_001362537.1:p.Val357Ile
NM_001375609.1:c.1102G>A	NP_001362538.1:p.Val368Ile
NM_001375610.1:c.1120G>A	NP_001362539.1:p.Val374Ile
NM_001375611.1:c.1126G>A	NP_001362540.1:p.Val376Ile
NM_001375613.1:c.1126G>A	NP_001362542.1:p.Val376Ile