Canonical Allele Identifier: CA348405123

Gene: PROC

Linked Data

• MyVariant Identifiers: chr2:g.128186101A>C (hg19) ; chr2:g.127428525A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127428525A>C , CM000664.2:g.127428525A>C	GRCh38
NC_000002.11:g.128186101A>C , CM000664.1:g.128186101A>C	GRCh37
NC_000002.10:g.127902571A>C	NCBI36
NG_016323.1:g.15106A>C , LRG_599:g.15106A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234071.8:c.965A>C MANE Select	ENSP00000234071.4:p.Asp322Ala
ENST00000234071.7:c.965A>C	ENSP00000234071.3:p.Asp322Ala
ENST00000402125.2:c.289A>C
ENST00000409048.1:c.1067A>C	ENSP00000386679.1:p.Asp356Ala
NM_000312.3:c.965A>C , LRG_599t1:c.965A>C	NP_000303.1:p.Asp322Ala
XM_005263715.3:c.1148A>C	XP_005263772.1:p.Asp383Ala
XM_005263716.3:c.1130A>C	XP_005263773.1:p.Asp377Ala
XM_005263717.3:c.1028A>C	XP_005263774.1:p.Asp343Ala
XR_923313.1:n.1332-261T>G
XM_005263717.4:c.1028A>C	XP_005263774.1:p.Asp343Ala
XM_017004505.1:c.1208A>C	XP_016859994.1:p.Asp403Ala
XM_024453002.1:c.1310A>C	XP_024308770.1:p.Asp437Ala
XM_024453003.1:c.1250A>C	XP_024308771.1:p.Asp417Ala
XM_024453004.1:c.1148A>C	XP_024308772.1:p.Asp383Ala
XM_024453005.1:c.1130A>C	XP_024308773.1:p.Asp377Ala
XM_024453006.1:c.1067A>C	XP_024308774.1:p.Asp356Ala
XR_001739705.1:n.3607-261T>G
XR_923313.2:n.4043-261T>G
NM_000312.4:c.965A>C MANE Select	NP_000303.1:p.Asp322Ala
NM_001375602.1:c.1148A>C	NP_001362531.1:p.Asp383Ala
NM_001375603.1:c.1130A>C	NP_001362532.1:p.Asp377Ala
NM_001375604.1:c.1028A>C	NP_001362533.1:p.Asp343Ala
NM_001375605.1:c.1067A>C	NP_001362534.1:p.Asp356Ala
NM_001375606.1:c.1133A>C	NP_001362535.1:p.Asp378Ala
NM_001375607.1:c.1151A>C	NP_001362536.1:p.Asp384Ala
NM_001375608.1:c.908A>C	NP_001362537.1:p.Asp303Ala
NM_001375609.1:c.941A>C	NP_001362538.1:p.Asp314Ala
NM_001375610.1:c.959A>C	NP_001362539.1:p.Asp320Ala
NM_001375611.1:c.965A>C	NP_001362540.1:p.Asp322Ala
NM_001375613.1:c.965A>C	NP_001362542.1:p.Asp322Ala