Canonical Allele Identifier: CA428618571
Gene: PROC HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.128184731C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.127427155C>A , CM000664.2:g.127427155C>A GRCh38
NC_000002.11:g.128184731C>A , CM000664.1:g.128184731C>A GRCh37
NC_000002.10:g.127901201C>A NCBI36
NG_016323.1:g.13736C>A , LRG_599:g.13736C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000234071.8:c.729C>A MANE Select ENSP00000234071.4:p.Ile243=
ENST00000234071.7:c.729C>A ENSP00000234071.3:p.Ile243=
ENST00000402125.2:c.121-1202C>A
ENST00000409048.1:c.831C>A ENSP00000386679.1:p.Ile277=
NM_000312.3:c.729C>A , LRG_599t1:c.729C>A NP_000303.1:p.Ile243=
XM_005263715.3:c.912C>A XP_005263772.1:p.Ile304=
XM_005263716.3:c.894C>A XP_005263773.1:p.Ile298=
XM_005263717.3:c.792C>A XP_005263774.1:p.Ile264=
XR_923313.1:n.1486-767G>T
XM_005263717.4:c.792C>A XP_005263774.1:p.Ile264=
XM_017004505.1:c.972C>A XP_016859994.1:p.Ile324=
XM_024453002.1:c.1074C>A XP_024308770.1:p.Ile358=
XM_024453003.1:c.1014C>A XP_024308771.1:p.Ile338=
XM_024453004.1:c.912C>A XP_024308772.1:p.Ile304=
XM_024453005.1:c.894C>A XP_024308773.1:p.Ile298=
XM_024453006.1:c.831C>A XP_024308774.1:p.Ile277=
XR_923313.2:n.4197-767G>T
NM_000312.4:c.729C>A MANE Select NP_000303.1:p.Ile243=
NM_001375602.1:c.912C>A NP_001362531.1:p.Ile304=
NM_001375603.1:c.894C>A NP_001362532.1:p.Ile298=
NM_001375604.1:c.792C>A NP_001362533.1:p.Ile264=
NM_001375605.1:c.831C>A NP_001362534.1:p.Ile277=
NM_001375606.1:c.897C>A NP_001362535.1:p.Ile299=
NM_001375607.1:c.915C>A NP_001362536.1:p.Ile305=
NM_001375608.1:c.672C>A NP_001362537.1:p.Ile224=
NM_001375609.1:c.705C>A NP_001362538.1:p.Ile235=
NM_001375610.1:c.723C>A NP_001362539.1:p.Ile241=
NM_001375611.1:c.729C>A NP_001362540.1:p.Ile243=
NM_001375613.1:c.729C>A NP_001362542.1:p.Ile243=