Canonical Allele Identifier: CA55349330
Gene: PROC HGNC NCBI

Linked Data

dbSNP Id: rs199469475

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.127427144dup , CM000664.2:g.127427144dup GRCh38
NC_000002.11:g.128184720dup , CM000664.1:g.128184720dup GRCh37
NC_000002.10:g.127901190dup NCBI36
NG_016323.1:g.13725dup , LRG_599:g.13725dup

Transcript Alleles

HGVS Amino-acid change
ENST00000234071.8:c.718dup MANE Select ENSP00000234071.4:p.Ala240GlyfsTer18
ENST00000234071.7:c.718dup ENSP00000234071.3:p.Ala240GlyfsTer18
ENST00000402125.2:c.121-1213dup
ENST00000409048.1:c.820dup ENSP00000386679.1:p.Ala274GlyfsTer18
NM_000312.3:c.718dup , LRG_599t1:c.718dup NP_000303.1:p.Ala240GlyfsTer18
XM_005263715.3:c.901dup XP_005263772.1:p.Ala301GlyfsTer18
XM_005263716.3:c.883dup XP_005263773.1:p.Ala295GlyfsTer18
XM_005263717.3:c.781dup XP_005263774.1:p.Ala261GlyfsTer18
XR_923313.1:n.1486-753dup
XM_005263717.4:c.781dup XP_005263774.1:p.Ala261GlyfsTer18
XM_017004505.1:c.961dup XP_016859994.1:p.Ala321GlyfsTer18
XM_024453002.1:c.1063dup XP_024308770.1:p.Ala355GlyfsTer18
XM_024453003.1:c.1003dup XP_024308771.1:p.Ala335GlyfsTer18
XM_024453004.1:c.901dup XP_024308772.1:p.Ala301GlyfsTer18
XM_024453005.1:c.883dup XP_024308773.1:p.Ala295GlyfsTer18
XM_024453006.1:c.820dup XP_024308774.1:p.Ala274GlyfsTer18
XR_923313.2:n.4197-753dup
NM_000312.4:c.718dup MANE Select NP_000303.1:p.Ala240GlyfsTer18
NM_001375602.1:c.901dup NP_001362531.1:p.Ala301GlyfsTer18
NM_001375603.1:c.883dup NP_001362532.1:p.Ala295GlyfsTer18
NM_001375604.1:c.781dup NP_001362533.1:p.Ala261GlyfsTer18
NM_001375605.1:c.820dup NP_001362534.1:p.Ala274GlyfsTer18
NM_001375606.1:c.886dup NP_001362535.1:p.Ala296GlyfsTer18
NM_001375607.1:c.904dup NP_001362536.1:p.Ala302GlyfsTer18
NM_001375608.1:c.661dup NP_001362537.1:p.Ala221GlyfsTer18
NM_001375609.1:c.694dup NP_001362538.1:p.Ala232GlyfsTer18
NM_001375610.1:c.712dup NP_001362539.1:p.Ala238GlyfsTer18
NM_001375611.1:c.718dup NP_001362540.1:p.Ala240GlyfsTer18
NM_001375613.1:c.718dup NP_001362542.1:p.Ala240GlyfsTer18