Canonical Allele Identifier: CA348406077

Gene: PROC

Linked Data

• dbSNP Id: rs148855579
• gnomAD v2: 2-128186297-T-G
• gnomAD v4: 2-127428721-T-G
• MyVariant Identifiers: chr2:g.128186297T>G (hg19) ; chr2:g.127428721T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127428721T>G , CM000664.2:g.127428721T>G	GRCh38
NC_000002.11:g.128186297T>G , CM000664.1:g.128186297T>G	GRCh37
NC_000002.10:g.127902767T>G	NCBI36
NG_016323.1:g.15302T>G , LRG_599:g.15302T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000234071.8:c.1161T>G MANE Select	ENSP00000234071.4:p.Cys387Trp
ENST00000234071.7:c.1161T>G	ENSP00000234071.3:p.Cys387Trp
ENST00000402125.2:c.485T>G
ENST00000409048.1:c.1263T>G	ENSP00000386679.1:p.Cys421Trp
NM_000312.3:c.1161T>G , LRG_599t1:c.1161T>G	NP_000303.1:p.Cys387Trp
XM_005263715.3:c.1344T>G	XP_005263772.1:p.Cys448Trp
XM_005263716.3:c.1326T>G	XP_005263773.1:p.Cys442Trp
XM_005263717.3:c.1224T>G	XP_005263774.1:p.Cys408Trp
XR_923313.1:n.1332-457A>C
XM_005263717.4:c.1224T>G	XP_005263774.1:p.Cys408Trp
XM_017004505.1:c.1404T>G	XP_016859994.1:p.Cys468Trp
XM_024453002.1:c.1506T>G	XP_024308770.1:p.Cys502Trp
XM_024453003.1:c.1446T>G	XP_024308771.1:p.Cys482Trp
XM_024453004.1:c.1344T>G	XP_024308772.1:p.Cys448Trp
XM_024453005.1:c.1326T>G	XP_024308773.1:p.Cys442Trp
XM_024453006.1:c.1263T>G	XP_024308774.1:p.Cys421Trp
XR_001739705.1:n.3607-457A>C
XR_923313.2:n.4043-457A>C
NM_000312.4:c.1161T>G MANE Select	NP_000303.1:p.Cys387Trp
NM_001375602.1:c.1344T>G	NP_001362531.1:p.Cys448Trp
NM_001375603.1:c.1326T>G	NP_001362532.1:p.Cys442Trp
NM_001375604.1:c.1224T>G	NP_001362533.1:p.Cys408Trp
NM_001375605.1:c.1263T>G	NP_001362534.1:p.Cys421Trp
NM_001375606.1:c.1329T>G	NP_001362535.1:p.Cys443Trp
NM_001375607.1:c.1347T>G	NP_001362536.1:p.Cys449Trp
NM_001375608.1:c.1104T>G	NP_001362537.1:p.Cys368Trp
NM_001375609.1:c.1137T>G	NP_001362538.1:p.Cys379Trp
NM_001375610.1:c.1155T>G	NP_001362539.1:p.Cys385Trp
NM_001375611.1:c.1161T>G	NP_001362540.1:p.Cys387Trp
NM_001375613.1:c.1161T>G	NP_001362542.1:p.Cys387Trp