Canonical Allele Identifier: CA348400965

Gene: PROC

Linked Data

• MyVariant Identifiers: chr2:g.128183667T>G (hg19) ; chr2:g.127426091T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127426091T>G , CM000664.2:g.127426091T>G	GRCh38
NC_000002.11:g.128183667T>G , CM000664.1:g.128183667T>G	GRCh37
NC_000002.10:g.127900137T>G	NCBI36
NG_016323.1:g.12672T>G , LRG_599:g.12672T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000234071.8:c.542T>G MANE Select	ENSP00000234071.4:p.Phe181Cys
ENST00000234071.7:c.542T>G	ENSP00000234071.3:p.Phe181Cys
ENST00000402125.2:c.121-2266T>G
ENST00000409048.1:c.644T>G	ENSP00000386679.1:p.Phe215Cys
ENST00000442644.5:c.485T>G	ENSP00000411241.1:p.Phe162Cys
ENST00000464089.1:n.128T>G
NM_000312.3:c.542T>G , LRG_599t1:c.542T>G	NP_000303.1:p.Phe181Cys
XM_005263715.3:c.725T>G	XP_005263772.1:p.Phe242Cys
XM_005263716.3:c.707T>G	XP_005263773.1:p.Phe236Cys
XM_005263717.3:c.605T>G	XP_005263774.1:p.Phe202Cys
XM_005263717.4:c.605T>G	XP_005263774.1:p.Phe202Cys
XM_017004505.1:c.785T>G	XP_016859994.1:p.Phe262Cys
XM_024453002.1:c.887T>G	XP_024308770.1:p.Phe296Cys
XM_024453003.1:c.827T>G	XP_024308771.1:p.Phe276Cys
XM_024453004.1:c.725T>G	XP_024308772.1:p.Phe242Cys
XM_024453005.1:c.707T>G	XP_024308773.1:p.Phe236Cys
XM_024453006.1:c.644T>G	XP_024308774.1:p.Phe215Cys
XR_923313.2:n.4494A>C
NM_000312.4:c.542T>G MANE Select	NP_000303.1:p.Phe181Cys
NM_001375602.1:c.725T>G	NP_001362531.1:p.Phe242Cys
NM_001375603.1:c.707T>G	NP_001362532.1:p.Phe236Cys
NM_001375604.1:c.605T>G	NP_001362533.1:p.Phe202Cys
NM_001375605.1:c.644T>G	NP_001362534.1:p.Phe215Cys
NM_001375606.1:c.710T>G	NP_001362535.1:p.Phe237Cys
NM_001375607.1:c.728T>G	NP_001362536.1:p.Phe243Cys
NM_001375608.1:c.485T>G	NP_001362537.1:p.Phe162Cys
NM_001375609.1:c.518T>G	NP_001362538.1:p.Phe173Cys
NM_001375610.1:c.536T>G	NP_001362539.1:p.Phe179Cys
NM_001375611.1:c.542T>G	NP_001362540.1:p.Phe181Cys
NM_001375613.1:c.542T>G	NP_001362542.1:p.Phe181Cys