Canonical Allele Identifier: CA348406280

Gene: PROC

Linked Data

• dbSNP Id: rs1553425452
• MyVariant Identifiers: chr2:g.128186349C>G (hg19) ; chr2:g.127428773C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127428773C>G , CM000664.2:g.127428773C>G	GRCh38
NC_000002.11:g.128186349C>G , CM000664.1:g.128186349C>G	GRCh37
NC_000002.10:g.127902819C>G	NCBI36
NG_016323.1:g.15354C>G , LRG_599:g.15354C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234071.8:c.1213C>G MANE Select	ENSP00000234071.4:p.Pro405Ala
ENST00000234071.7:c.1213C>G	ENSP00000234071.3:p.Pro405Ala
ENST00000402125.2:c.537C>G
ENST00000409048.1:c.1315C>G	ENSP00000386679.1:p.Pro439Ala
NM_000312.3:c.1213C>G , LRG_599t1:c.1213C>G	NP_000303.1:p.Pro405Ala
XM_005263715.3:c.1396C>G	XP_005263772.1:p.Pro466Ala
XM_005263716.3:c.1378C>G	XP_005263773.1:p.Pro460Ala
XM_005263717.3:c.1276C>G	XP_005263774.1:p.Pro426Ala
XR_923313.1:n.1332-509G>C
XM_005263717.4:c.1276C>G	XP_005263774.1:p.Pro426Ala
XM_017004505.1:c.1456C>G	XP_016859994.1:p.Pro486Ala
XM_024453002.1:c.1558C>G	XP_024308770.1:p.Pro520Ala
XM_024453003.1:c.1498C>G	XP_024308771.1:p.Pro500Ala
XM_024453004.1:c.1396C>G	XP_024308772.1:p.Pro466Ala
XM_024453005.1:c.1378C>G	XP_024308773.1:p.Pro460Ala
XM_024453006.1:c.1315C>G	XP_024308774.1:p.Pro439Ala
XR_001739705.1:n.3607-509G>C
XR_923313.2:n.4043-509G>C
NM_000312.4:c.1213C>G MANE Select	NP_000303.1:p.Pro405Ala
NM_001375602.1:c.1396C>G	NP_001362531.1:p.Pro466Ala
NM_001375603.1:c.1378C>G	NP_001362532.1:p.Pro460Ala
NM_001375604.1:c.1276C>G	NP_001362533.1:p.Pro426Ala
NM_001375605.1:c.1315C>G	NP_001362534.1:p.Pro439Ala
NM_001375606.1:c.1381C>G	NP_001362535.1:p.Pro461Ala
NM_001375607.1:c.1399C>G	NP_001362536.1:p.Pro467Ala
NM_001375608.1:c.1156C>G	NP_001362537.1:p.Pro386Ala
NM_001375609.1:c.1189C>G	NP_001362538.1:p.Pro397Ala
NM_001375610.1:c.1207C>G	NP_001362539.1:p.Pro403Ala
NM_001375611.1:c.1213C>G	NP_001362540.1:p.Pro405Ala
NM_001375613.1:c.1213C>G	NP_001362542.1:p.Pro405Ala