Canonical Allele Identifier: CA428872775
Gene: PROC HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.128186393G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.127428817G>A , CM000664.2:g.127428817G>A GRCh38
NC_000002.11:g.128186393G>A , CM000664.1:g.128186393G>A GRCh37
NC_000002.10:g.127902863G>A NCBI36
NG_016323.1:g.15398G>A , LRG_599:g.15398G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000234071.8:c.1257G>A MANE Select ENSP00000234071.4:p.Leu419=
ENST00000234071.7:c.1257G>A ENSP00000234071.3:p.Leu419=
ENST00000402125.2:c.581G>A
ENST00000409048.1:c.1359G>A ENSP00000386679.1:p.Leu453=
NM_000312.3:c.1257G>A , LRG_599t1:c.1257G>A NP_000303.1:p.Leu419=
XM_005263715.3:c.1440G>A XP_005263772.1:p.Leu480=
XM_005263716.3:c.1422G>A XP_005263773.1:p.Leu474=
XM_005263717.3:c.1320G>A XP_005263774.1:p.Leu440=
XR_923313.1:n.1332-553C>T
XM_005263717.4:c.1320G>A XP_005263774.1:p.Leu440=
XM_017004505.1:c.1500G>A XP_016859994.1:p.Leu500=
XM_024453002.1:c.1602G>A XP_024308770.1:p.Leu534=
XM_024453003.1:c.1542G>A XP_024308771.1:p.Leu514=
XM_024453004.1:c.1440G>A XP_024308772.1:p.Leu480=
XM_024453005.1:c.1422G>A XP_024308773.1:p.Leu474=
XM_024453006.1:c.1359G>A XP_024308774.1:p.Leu453=
XR_001739705.1:n.3607-553C>T
XR_923313.2:n.4043-553C>T
NM_000312.4:c.1257G>A MANE Select NP_000303.1:p.Leu419=
NM_001375602.1:c.1440G>A NP_001362531.1:p.Leu480=
NM_001375603.1:c.1422G>A NP_001362532.1:p.Leu474=
NM_001375604.1:c.1320G>A NP_001362533.1:p.Leu440=
NM_001375605.1:c.1359G>A NP_001362534.1:p.Leu453=
NM_001375606.1:c.1425G>A NP_001362535.1:p.Leu475=
NM_001375607.1:c.1443G>A NP_001362536.1:p.Leu481=
NM_001375608.1:c.1200G>A NP_001362537.1:p.Leu400=
NM_001375609.1:c.1233G>A NP_001362538.1:p.Leu411=
NM_001375610.1:c.1251G>A NP_001362539.1:p.Leu417=
NM_001375611.1:c.1257G>A NP_001362540.1:p.Leu419=
NM_001375613.1:c.1257G>A NP_001362542.1:p.Leu419=