Canonical Allele Identifier: CA348404275
Gene: PROC HGNC NCBI
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.127428374C>A , CM000664.2:g.127428374C>A GRCh38
NC_000002.11:g.128185950C>A , CM000664.1:g.128185950C>A GRCh37
NC_000002.10:g.127902420C>A NCBI36
NG_016323.1:g.14955C>A , LRG_599:g.14955C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000234071.8:c.814C>A MANE Select ENSP00000234071.4:p.Arg272Ser
ENST00000234071.7:c.814C>A ENSP00000234071.3:p.Arg272Ser
ENST00000402125.2:c.138C>A
ENST00000409048.1:c.916C>A ENSP00000386679.1:p.Arg306Ser
NM_000312.3:c.814C>A , LRG_599t1:c.814C>A NP_000303.1:p.Arg272Ser
XM_005263715.3:c.997C>A XP_005263772.1:p.Arg333Ser
XM_005263716.3:c.979C>A XP_005263773.1:p.Arg327Ser
XM_005263717.3:c.877C>A XP_005263774.1:p.Arg293Ser
XR_923313.1:n.1332-110G>T
XM_005263717.4:c.877C>A XP_005263774.1:p.Arg293Ser
XM_017004505.1:c.1057C>A XP_016859994.1:p.Arg353Ser
XM_024453002.1:c.1159C>A XP_024308770.1:p.Arg387Ser
XM_024453003.1:c.1099C>A XP_024308771.1:p.Arg367Ser
XM_024453004.1:c.997C>A XP_024308772.1:p.Arg333Ser
XM_024453005.1:c.979C>A XP_024308773.1:p.Arg327Ser
XM_024453006.1:c.916C>A XP_024308774.1:p.Arg306Ser
XR_001739705.1:n.3607-110G>T
XR_923313.2:n.4043-110G>T
NM_000312.4:c.814C>A MANE Select NP_000303.1:p.Arg272Ser
NM_001375602.1:c.997C>A NP_001362531.1:p.Arg333Ser
NM_001375603.1:c.979C>A NP_001362532.1:p.Arg327Ser
NM_001375604.1:c.877C>A NP_001362533.1:p.Arg293Ser
NM_001375605.1:c.916C>A NP_001362534.1:p.Arg306Ser
NM_001375606.1:c.982C>A NP_001362535.1:p.Arg328Ser
NM_001375607.1:c.1000C>A NP_001362536.1:p.Arg334Ser
NM_001375608.1:c.757C>A NP_001362537.1:p.Arg253Ser
NM_001375609.1:c.790C>A NP_001362538.1:p.Arg264Ser
NM_001375610.1:c.808C>A NP_001362539.1:p.Arg270Ser
NM_001375611.1:c.814C>A NP_001362540.1:p.Arg272Ser
NM_001375613.1:c.814C>A NP_001362542.1:p.Arg272Ser