Canonical Allele Identifier: CA348405979

Gene: PROC

Linked Data

• ClinVar Variation Id: 2734267
• ClinVar RCV Id: RCV003494640
• gnomAD v4: 2-127428702-T-C
• MyVariant Identifiers: chr2:g.128186278T>C (hg19) ; chr2:g.127428702T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127428702T>C , CM000664.2:g.127428702T>C	GRCh38
NC_000002.11:g.128186278T>C , CM000664.1:g.128186278T>C	GRCh37
NC_000002.10:g.127902748T>C	NCBI36
NG_016323.1:g.15283T>C , LRG_599:g.15283T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234071.8:c.1142T>C MANE Select	ENSP00000234071.4:p.Val381Ala
ENST00000234071.7:c.1142T>C	ENSP00000234071.3:p.Val381Ala
ENST00000402125.2:c.466T>C
ENST00000409048.1:c.1244T>C	ENSP00000386679.1:p.Val415Ala
NM_000312.3:c.1142T>C , LRG_599t1:c.1142T>C	NP_000303.1:p.Val381Ala
XM_005263715.3:c.1325T>C	XP_005263772.1:p.Val442Ala
XM_005263716.3:c.1307T>C	XP_005263773.1:p.Val436Ala
XM_005263717.3:c.1205T>C	XP_005263774.1:p.Val402Ala
XR_923313.1:n.1332-438A>G
XM_005263717.4:c.1205T>C	XP_005263774.1:p.Val402Ala
XM_017004505.1:c.1385T>C	XP_016859994.1:p.Val462Ala
XM_024453002.1:c.1487T>C	XP_024308770.1:p.Val496Ala
XM_024453003.1:c.1427T>C	XP_024308771.1:p.Val476Ala
XM_024453004.1:c.1325T>C	XP_024308772.1:p.Val442Ala
XM_024453005.1:c.1307T>C	XP_024308773.1:p.Val436Ala
XM_024453006.1:c.1244T>C	XP_024308774.1:p.Val415Ala
XR_001739705.1:n.3607-438A>G
XR_923313.2:n.4043-438A>G
NM_000312.4:c.1142T>C MANE Select	NP_000303.1:p.Val381Ala
NM_001375602.1:c.1325T>C	NP_001362531.1:p.Val442Ala
NM_001375603.1:c.1307T>C	NP_001362532.1:p.Val436Ala
NM_001375604.1:c.1205T>C	NP_001362533.1:p.Val402Ala
NM_001375605.1:c.1244T>C	NP_001362534.1:p.Val415Ala
NM_001375606.1:c.1310T>C	NP_001362535.1:p.Val437Ala
NM_001375607.1:c.1328T>C	NP_001362536.1:p.Val443Ala
NM_001375608.1:c.1085T>C	NP_001362537.1:p.Val362Ala
NM_001375609.1:c.1118T>C	NP_001362538.1:p.Val373Ala
NM_001375610.1:c.1136T>C	NP_001362539.1:p.Val379Ala
NM_001375611.1:c.1142T>C	NP_001362540.1:p.Val381Ala
NM_001375613.1:c.1142T>C	NP_001362542.1:p.Val381Ala