Canonical Allele Identifier: CA348405073

Gene: PROC

Linked Data

• MyVariant Identifiers: chr2:g.128186093C>G (hg19) ; chr2:g.127428517C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127428517C>G , CM000664.2:g.127428517C>G	GRCh38
NC_000002.11:g.128186093C>G , CM000664.1:g.128186093C>G	GRCh37
NC_000002.10:g.127902563C>G	NCBI36
NG_016323.1:g.15098C>G , LRG_599:g.15098C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234071.8:c.957C>G MANE Select	ENSP00000234071.4:p.Cys319Trp
ENST00000234071.7:c.957C>G	ENSP00000234071.3:p.Cys319Trp
ENST00000402125.2:c.281C>G
ENST00000409048.1:c.1059C>G	ENSP00000386679.1:p.Cys353Trp
NM_000312.3:c.957C>G , LRG_599t1:c.957C>G	NP_000303.1:p.Cys319Trp
XM_005263715.3:c.1140C>G	XP_005263772.1:p.Cys380Trp
XM_005263716.3:c.1122C>G	XP_005263773.1:p.Cys374Trp
XM_005263717.3:c.1020C>G	XP_005263774.1:p.Cys340Trp
XR_923313.1:n.1332-253G>C
XM_005263717.4:c.1020C>G	XP_005263774.1:p.Cys340Trp
XM_017004505.1:c.1200C>G	XP_016859994.1:p.Cys400Trp
XM_024453002.1:c.1302C>G	XP_024308770.1:p.Cys434Trp
XM_024453003.1:c.1242C>G	XP_024308771.1:p.Cys414Trp
XM_024453004.1:c.1140C>G	XP_024308772.1:p.Cys380Trp
XM_024453005.1:c.1122C>G	XP_024308773.1:p.Cys374Trp
XM_024453006.1:c.1059C>G	XP_024308774.1:p.Cys353Trp
XR_001739705.1:n.3607-253G>C
XR_923313.2:n.4043-253G>C
NM_000312.4:c.957C>G MANE Select	NP_000303.1:p.Cys319Trp
NM_001375602.1:c.1140C>G	NP_001362531.1:p.Cys380Trp
NM_001375603.1:c.1122C>G	NP_001362532.1:p.Cys374Trp
NM_001375604.1:c.1020C>G	NP_001362533.1:p.Cys340Trp
NM_001375605.1:c.1059C>G	NP_001362534.1:p.Cys353Trp
NM_001375606.1:c.1125C>G	NP_001362535.1:p.Cys375Trp
NM_001375607.1:c.1143C>G	NP_001362536.1:p.Cys381Trp
NM_001375608.1:c.900C>G	NP_001362537.1:p.Cys300Trp
NM_001375609.1:c.933C>G	NP_001362538.1:p.Cys311Trp
NM_001375610.1:c.951C>G	NP_001362539.1:p.Cys317Trp
NM_001375611.1:c.957C>G	NP_001362540.1:p.Cys319Trp
NM_001375613.1:c.957C>G	NP_001362542.1:p.Cys319Trp