Canonical Allele Identifier: CA348406673

Gene: PROC

Linked Data

• gnomAD v4: 2-127428887-G-C
• MyVariant Identifiers: chr2:g.128186463G>C (hg19) ; chr2:g.127428887G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127428887G>C , CM000664.2:g.127428887G>C	GRCh38
NC_000002.11:g.128186463G>C , CM000664.1:g.128186463G>C	GRCh37
NC_000002.10:g.127902933G>C	NCBI36
NG_016323.1:g.15468G>C , LRG_599:g.15468G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234071.8:c.1327G>C MANE Select	ENSP00000234071.4:p.Asp443His
ENST00000234071.7:c.1327G>C	ENSP00000234071.3:p.Asp443His
ENST00000402125.2:c.651G>C
ENST00000409048.1:c.1429G>C	ENSP00000386679.1:p.Asp477His
NM_000312.3:c.1327G>C , LRG_599t1:c.1327G>C	NP_000303.1:p.Asp443His
XM_005263715.3:c.1510G>C	XP_005263772.1:p.Asp504His
XM_005263716.3:c.1492G>C	XP_005263773.1:p.Asp498His
XM_005263717.3:c.1390G>C	XP_005263774.1:p.Asp464His
XR_923313.1:n.1332-623C>G
XM_005263717.4:c.1390G>C	XP_005263774.1:p.Asp464His
XM_017004505.1:c.1570G>C	XP_016859994.1:p.Asp524His
XM_024453002.1:c.1672G>C	XP_024308770.1:p.Asp558His
XM_024453003.1:c.1612G>C	XP_024308771.1:p.Asp538His
XM_024453004.1:c.1510G>C	XP_024308772.1:p.Asp504His
XM_024453005.1:c.1492G>C	XP_024308773.1:p.Asp498His
XM_024453006.1:c.1429G>C	XP_024308774.1:p.Asp477His
XR_001739705.1:n.3607-623C>G
XR_923313.2:n.4043-623C>G
NM_000312.4:c.1327G>C MANE Select	NP_000303.1:p.Asp443His
NM_001375602.1:c.1510G>C	NP_001362531.1:p.Asp504His
NM_001375603.1:c.1492G>C	NP_001362532.1:p.Asp498His
NM_001375604.1:c.1390G>C	NP_001362533.1:p.Asp464His
NM_001375605.1:c.1429G>C	NP_001362534.1:p.Asp477His
NM_001375606.1:c.1495G>C	NP_001362535.1:p.Asp499His
NM_001375607.1:c.1513G>C	NP_001362536.1:p.Asp505His
NM_001375608.1:c.1270G>C	NP_001362537.1:p.Asp424His
NM_001375609.1:c.1303G>C	NP_001362538.1:p.Asp435His
NM_001375610.1:c.1321G>C	NP_001362539.1:p.Asp441His
NM_001375611.1:c.1327G>C	NP_001362540.1:p.Asp443His
NM_001375613.1:c.1327G>C	NP_001362542.1:p.Asp443His