Canonical Allele Identifier: CA348404238

Gene: PROC

Linked Data

• MyVariant Identifiers: chr2:g.128185940T>A (hg19) ; chr2:g.127428364T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127428364T>A , CM000664.2:g.127428364T>A	GRCh38
NC_000002.11:g.128185940T>A , CM000664.1:g.128185940T>A	GRCh37
NC_000002.10:g.127902410T>A	NCBI36
NG_016323.1:g.14945T>A , LRG_599:g.14945T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234071.8:c.804T>A MANE Select	ENSP00000234071.4:p.Tyr268Ter
ENST00000234071.7:c.804T>A	ENSP00000234071.3:p.Tyr268Ter
ENST00000402125.2:c.128T>A
ENST00000409048.1:c.906T>A	ENSP00000386679.1:p.Tyr302Ter
NM_000312.3:c.804T>A , LRG_599t1:c.804T>A	NP_000303.1:p.Tyr268Ter
XM_005263715.3:c.987T>A	XP_005263772.1:p.Tyr329Ter
XM_005263716.3:c.969T>A	XP_005263773.1:p.Tyr323Ter
XM_005263717.3:c.867T>A	XP_005263774.1:p.Tyr289Ter
XR_923313.1:n.1332-100A>T
XM_005263717.4:c.867T>A	XP_005263774.1:p.Tyr289Ter
XM_017004505.1:c.1047T>A	XP_016859994.1:p.Tyr349Ter
XM_024453002.1:c.1149T>A	XP_024308770.1:p.Tyr383Ter
XM_024453003.1:c.1089T>A	XP_024308771.1:p.Tyr363Ter
XM_024453004.1:c.987T>A	XP_024308772.1:p.Tyr329Ter
XM_024453005.1:c.969T>A	XP_024308773.1:p.Tyr323Ter
XM_024453006.1:c.906T>A	XP_024308774.1:p.Tyr302Ter
XR_001739705.1:n.3607-100A>T
XR_923313.2:n.4043-100A>T
NM_000312.4:c.804T>A MANE Select	NP_000303.1:p.Tyr268Ter
NM_001375602.1:c.987T>A	NP_001362531.1:p.Tyr329Ter
NM_001375603.1:c.969T>A	NP_001362532.1:p.Tyr323Ter
NM_001375604.1:c.867T>A	NP_001362533.1:p.Tyr289Ter
NM_001375605.1:c.906T>A	NP_001362534.1:p.Tyr302Ter
NM_001375606.1:c.972T>A	NP_001362535.1:p.Tyr324Ter
NM_001375607.1:c.990T>A	NP_001362536.1:p.Tyr330Ter
NM_001375608.1:c.747T>A	NP_001362537.1:p.Tyr249Ter
NM_001375609.1:c.780T>A	NP_001362538.1:p.Tyr260Ter
NM_001375610.1:c.798T>A	NP_001362539.1:p.Tyr266Ter
NM_001375611.1:c.804T>A	NP_001362540.1:p.Tyr268Ter
NM_001375613.1:c.804T>A	NP_001362542.1:p.Tyr268Ter