Canonical Allele Identifier: CA55351436
Gene: PROC HGNC NCBI

Linked Data

dbSNP Id: rs199469472

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.127428818G>T , CM000664.2:g.127428818G>T GRCh38
NC_000002.11:g.128186394G>T , CM000664.1:g.128186394G>T GRCh37
NC_000002.10:g.127902864G>T NCBI36
NG_016323.1:g.15399G>T , LRG_599:g.15399G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000234071.8:c.1258G>T MANE Select ENSP00000234071.4:p.Val420Leu
ENST00000234071.7:c.1258G>T ENSP00000234071.3:p.Val420Leu
ENST00000402125.2:n.582G>T
ENST00000409048.1:c.1360G>T ENSP00000386679.1:p.Val454Leu
NM_000312.3:c.1258G>T , LRG_599t1:c.1258G>T NP_000303.1:p.Val420Leu
XM_005263715.3:c.1441G>T XP_005263772.1:p.Val481Leu
XM_005263716.3:c.1423G>T XP_005263773.1:p.Val475Leu
XM_005263717.3:c.1321G>T XP_005263774.1:p.Val441Leu
XR_923313.1:n.1332-554C>A
XM_005263717.4:c.1321G>T XP_005263774.1:p.Val441Leu
XM_017004505.1:c.1501G>T XP_016859994.1:p.Val501Leu
XM_024453002.1:c.1603G>T XP_024308770.1:p.Val535Leu
XM_024453003.1:c.1543G>T XP_024308771.1:p.Val515Leu
XM_024453004.1:c.1441G>T XP_024308772.1:p.Val481Leu
XM_024453005.1:c.1423G>T XP_024308773.1:p.Val475Leu
XM_024453006.1:c.1360G>T XP_024308774.1:p.Val454Leu
XR_001739705.1:n.3607-554C>A
XR_923313.2:n.4043-554C>A
NM_000312.4:c.1258G>T MANE Select NP_000303.1:p.Val420Leu
NM_001375602.1:c.1441G>T NP_001362531.1:p.Val481Leu
NM_001375603.1:c.1423G>T NP_001362532.1:p.Val475Leu
NM_001375604.1:c.1321G>T NP_001362533.1:p.Val441Leu
NM_001375605.1:c.1360G>T NP_001362534.1:p.Val454Leu
NM_001375606.1:c.1426G>T NP_001362535.1:p.Val476Leu
NM_001375607.1:c.1444G>T NP_001362536.1:p.Val482Leu
NM_001375608.1:c.1201G>T NP_001362537.1:p.Val401Leu
NM_001375609.1:c.1234G>T NP_001362538.1:p.Val412Leu
NM_001375610.1:c.1252G>T NP_001362539.1:p.Val418Leu
NM_001375611.1:c.1258G>T NP_001362540.1:p.Val420Leu
NM_001375613.1:c.1258G>T NP_001362542.1:p.Val420Leu