Canonical Allele Identifier: CA348404740

Gene: PROC

Linked Data

• MyVariant Identifiers: chr2:g.128186038C>A (hg19) ; chr2:g.127428462C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127428462C>A , CM000664.2:g.127428462C>A	GRCh38
NC_000002.11:g.128186038C>A , CM000664.1:g.128186038C>A	GRCh37
NC_000002.10:g.127902508C>A	NCBI36
NG_016323.1:g.15043C>A , LRG_599:g.15043C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000234071.8:c.902C>A MANE Select	ENSP00000234071.4:p.Ala301Glu
ENST00000234071.7:c.902C>A	ENSP00000234071.3:p.Ala301Glu
ENST00000402125.2:c.226C>A
ENST00000409048.1:c.1004C>A	ENSP00000386679.1:p.Ala335Glu
NM_000312.3:c.902C>A , LRG_599t1:c.902C>A	NP_000303.1:p.Ala301Glu
XM_005263715.3:c.1085C>A	XP_005263772.1:p.Ala362Glu
XM_005263716.3:c.1067C>A	XP_005263773.1:p.Ala356Glu
XM_005263717.3:c.965C>A	XP_005263774.1:p.Ala322Glu
XR_923313.1:n.1332-198G>T
XM_005263717.4:c.965C>A	XP_005263774.1:p.Ala322Glu
XM_017004505.1:c.1145C>A	XP_016859994.1:p.Ala382Glu
XM_024453002.1:c.1247C>A	XP_024308770.1:p.Ala416Glu
XM_024453003.1:c.1187C>A	XP_024308771.1:p.Ala396Glu
XM_024453004.1:c.1085C>A	XP_024308772.1:p.Ala362Glu
XM_024453005.1:c.1067C>A	XP_024308773.1:p.Ala356Glu
XM_024453006.1:c.1004C>A	XP_024308774.1:p.Ala335Glu
XR_001739705.1:n.3607-198G>T
XR_923313.2:n.4043-198G>T
NM_000312.4:c.902C>A MANE Select	NP_000303.1:p.Ala301Glu
NM_001375602.1:c.1085C>A	NP_001362531.1:p.Ala362Glu
NM_001375603.1:c.1067C>A	NP_001362532.1:p.Ala356Glu
NM_001375604.1:c.965C>A	NP_001362533.1:p.Ala322Glu
NM_001375605.1:c.1004C>A	NP_001362534.1:p.Ala335Glu
NM_001375606.1:c.1070C>A	NP_001362535.1:p.Ala357Glu
NM_001375607.1:c.1088C>A	NP_001362536.1:p.Ala363Glu
NM_001375608.1:c.845C>A	NP_001362537.1:p.Ala282Glu
NM_001375609.1:c.878C>A	NP_001362538.1:p.Ala293Glu
NM_001375610.1:c.896C>A	NP_001362539.1:p.Ala299Glu
NM_001375611.1:c.902C>A	NP_001362540.1:p.Ala301Glu
NM_001375613.1:c.902C>A	NP_001362542.1:p.Ala301Glu