Canonical Allele Identifier: CA348406612

Gene: PROC

Linked Data

• MyVariant Identifiers: chr2:g.128186434G>C (hg19) ; chr2:g.127428858G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127428858G>C , CM000664.2:g.127428858G>C	GRCh38
NC_000002.11:g.128186434G>C , CM000664.1:g.128186434G>C	GRCh37
NC_000002.10:g.127902904G>C	NCBI36
NG_016323.1:g.15439G>C , LRG_599:g.15439G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234071.8:c.1298G>C MANE Select	ENSP00000234071.4:p.Gly433Ala
ENST00000234071.7:c.1298G>C	ENSP00000234071.3:p.Gly433Ala
ENST00000402125.2:c.622G>C
ENST00000409048.1:c.1400G>C	ENSP00000386679.1:p.Gly467Ala
NM_000312.3:c.1298G>C , LRG_599t1:c.1298G>C	NP_000303.1:p.Gly433Ala
XM_005263715.3:c.1481G>C	XP_005263772.1:p.Gly494Ala
XM_005263716.3:c.1463G>C	XP_005263773.1:p.Gly488Ala
XM_005263717.3:c.1361G>C	XP_005263774.1:p.Gly454Ala
XR_923313.1:n.1332-594C>G
XM_005263717.4:c.1361G>C	XP_005263774.1:p.Gly454Ala
XM_017004505.1:c.1541G>C	XP_016859994.1:p.Gly514Ala
XM_024453002.1:c.1643G>C	XP_024308770.1:p.Gly548Ala
XM_024453003.1:c.1583G>C	XP_024308771.1:p.Gly528Ala
XM_024453004.1:c.1481G>C	XP_024308772.1:p.Gly494Ala
XM_024453005.1:c.1463G>C	XP_024308773.1:p.Gly488Ala
XM_024453006.1:c.1400G>C	XP_024308774.1:p.Gly467Ala
XR_001739705.1:n.3607-594C>G
XR_923313.2:n.4043-594C>G
NM_000312.4:c.1298G>C MANE Select	NP_000303.1:p.Gly433Ala
NM_001375602.1:c.1481G>C	NP_001362531.1:p.Gly494Ala
NM_001375603.1:c.1463G>C	NP_001362532.1:p.Gly488Ala
NM_001375604.1:c.1361G>C	NP_001362533.1:p.Gly454Ala
NM_001375605.1:c.1400G>C	NP_001362534.1:p.Gly467Ala
NM_001375606.1:c.1466G>C	NP_001362535.1:p.Gly489Ala
NM_001375607.1:c.1484G>C	NP_001362536.1:p.Gly495Ala
NM_001375608.1:c.1241G>C	NP_001362537.1:p.Gly414Ala
NM_001375609.1:c.1274G>C	NP_001362538.1:p.Gly425Ala
NM_001375610.1:c.1292G>C	NP_001362539.1:p.Gly431Ala
NM_001375611.1:c.1298G>C	NP_001362540.1:p.Gly433Ala
NM_001375613.1:c.1298G>C	NP_001362542.1:p.Gly433Ala