Canonical Allele Identifier: CA348405750

Gene: PROC

Linked Data

• MyVariant Identifiers: chr2:g.128186226A>G (hg19) ; chr2:g.127428650A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127428650A>G , CM000664.2:g.127428650A>G	GRCh38
NC_000002.11:g.128186226A>G , CM000664.1:g.128186226A>G	GRCh37
NC_000002.10:g.127902696A>G	NCBI36
NG_016323.1:g.15231A>G , LRG_599:g.15231A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234071.8:c.1090A>G MANE Select	ENSP00000234071.4:p.Lys364Glu
ENST00000234071.7:c.1090A>G	ENSP00000234071.3:p.Lys364Glu
ENST00000402125.2:c.414A>G
ENST00000409048.1:c.1192A>G	ENSP00000386679.1:p.Lys398Glu
NM_000312.3:c.1090A>G , LRG_599t1:c.1090A>G	NP_000303.1:p.Lys364Glu
XM_005263715.3:c.1273A>G	XP_005263772.1:p.Lys425Glu
XM_005263716.3:c.1255A>G	XP_005263773.1:p.Lys419Glu
XM_005263717.3:c.1153A>G	XP_005263774.1:p.Lys385Glu
XR_923313.1:n.1332-386T>C
XM_005263717.4:c.1153A>G	XP_005263774.1:p.Lys385Glu
XM_017004505.1:c.1333A>G	XP_016859994.1:p.Lys445Glu
XM_024453002.1:c.1435A>G	XP_024308770.1:p.Lys479Glu
XM_024453003.1:c.1375A>G	XP_024308771.1:p.Lys459Glu
XM_024453004.1:c.1273A>G	XP_024308772.1:p.Lys425Glu
XM_024453005.1:c.1255A>G	XP_024308773.1:p.Lys419Glu
XM_024453006.1:c.1192A>G	XP_024308774.1:p.Lys398Glu
XR_001739705.1:n.3607-386T>C
XR_923313.2:n.4043-386T>C
NM_000312.4:c.1090A>G MANE Select	NP_000303.1:p.Lys364Glu
NM_001375602.1:c.1273A>G	NP_001362531.1:p.Lys425Glu
NM_001375603.1:c.1255A>G	NP_001362532.1:p.Lys419Glu
NM_001375604.1:c.1153A>G	NP_001362533.1:p.Lys385Glu
NM_001375605.1:c.1192A>G	NP_001362534.1:p.Lys398Glu
NM_001375606.1:c.1258A>G	NP_001362535.1:p.Lys420Glu
NM_001375607.1:c.1276A>G	NP_001362536.1:p.Lys426Glu
NM_001375608.1:c.1033A>G	NP_001362537.1:p.Lys345Glu
NM_001375609.1:c.1066A>G	NP_001362538.1:p.Lys356Glu
NM_001375610.1:c.1084A>G	NP_001362539.1:p.Lys362Glu
NM_001375611.1:c.1090A>G	NP_001362540.1:p.Lys364Glu
NM_001375613.1:c.1090A>G	NP_001362542.1:p.Lys364Glu