Canonical Allele Identifier: CA114419
Gene: PROC HGNC NCBI

Linked Data

ClinVar Variation Id: 675
dbSNP Id: rs121918156

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.127427219C>T , CM000664.2:g.127427219C>T GRCh38
NC_000002.11:g.128184795C>T , CM000664.1:g.128184795C>T GRCh37
NC_000002.10:g.127901265C>T NCBI36
NG_016323.1:g.13800C>T , LRG_599:g.13800C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000234071.8:c.793C>T MANE Select ENSP00000234071.4:p.Leu265Phe
ENST00000234071.7:c.793C>T ENSP00000234071.3:p.Leu265Phe
ENST00000402125.2:c.121-1138C>T
ENST00000409048.1:c.895C>T ENSP00000386679.1:p.Leu299Phe
NM_000312.3:c.793C>T , LRG_599t1:c.793C>T NP_000303.1:p.Leu265Phe
XM_005263715.3:c.976C>T XP_005263772.1:p.Leu326Phe
XM_005263716.3:c.958C>T XP_005263773.1:p.Leu320Phe
XM_005263717.3:c.856C>T XP_005263774.1:p.Leu286Phe
XR_923313.1:n.1486-831G>A
XM_005263717.4:c.856C>T XP_005263774.1:p.Leu286Phe
XM_017004505.1:c.1036C>T XP_016859994.1:p.Leu346Phe
XM_024453002.1:c.1138C>T XP_024308770.1:p.Leu380Phe
XM_024453003.1:c.1078C>T XP_024308771.1:p.Leu360Phe
XM_024453004.1:c.976C>T XP_024308772.1:p.Leu326Phe
XM_024453005.1:c.958C>T XP_024308773.1:p.Leu320Phe
XM_024453006.1:c.895C>T XP_024308774.1:p.Leu299Phe
XR_923313.2:n.4197-831G>A
NM_000312.4:c.793C>T MANE Select NP_000303.1:p.Leu265Phe
NM_001375602.1:c.976C>T NP_001362531.1:p.Leu326Phe
NM_001375603.1:c.958C>T NP_001362532.1:p.Leu320Phe
NM_001375604.1:c.856C>T NP_001362533.1:p.Leu286Phe
NM_001375605.1:c.895C>T NP_001362534.1:p.Leu299Phe
NM_001375606.1:c.961C>T NP_001362535.1:p.Leu321Phe
NM_001375607.1:c.979C>T NP_001362536.1:p.Leu327Phe
NM_001375608.1:c.736C>T NP_001362537.1:p.Leu246Phe
NM_001375609.1:c.769C>T NP_001362538.1:p.Leu257Phe
NM_001375610.1:c.787C>T NP_001362539.1:p.Leu263Phe
NM_001375611.1:c.793C>T NP_001362540.1:p.Leu265Phe
NM_001375613.1:c.793C>T NP_001362542.1:p.Leu265Phe