Canonical Allele Identifier: CA348405133

Gene: PROC

Linked Data

• MyVariant Identifiers: chr2:g.128186103A>T (hg19) ; chr2:g.127428527A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127428527A>T , CM000664.2:g.127428527A>T	GRCh38
NC_000002.11:g.128186103A>T , CM000664.1:g.128186103A>T	GRCh37
NC_000002.10:g.127902573A>T	NCBI36
NG_016323.1:g.15108A>T , LRG_599:g.15108A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234071.8:c.967A>T MANE Select	ENSP00000234071.4:p.Ser323Cys
ENST00000234071.7:c.967A>T	ENSP00000234071.3:p.Ser323Cys
ENST00000402125.2:c.291A>T
ENST00000409048.1:c.1069A>T	ENSP00000386679.1:p.Ser357Cys
NM_000312.3:c.967A>T , LRG_599t1:c.967A>T	NP_000303.1:p.Ser323Cys
XM_005263715.3:c.1150A>T	XP_005263772.1:p.Ser384Cys
XM_005263716.3:c.1132A>T	XP_005263773.1:p.Ser378Cys
XM_005263717.3:c.1030A>T	XP_005263774.1:p.Ser344Cys
XR_923313.1:n.1332-263T>A
XM_005263717.4:c.1030A>T	XP_005263774.1:p.Ser344Cys
XM_017004505.1:c.1210A>T	XP_016859994.1:p.Ser404Cys
XM_024453002.1:c.1312A>T	XP_024308770.1:p.Ser438Cys
XM_024453003.1:c.1252A>T	XP_024308771.1:p.Ser418Cys
XM_024453004.1:c.1150A>T	XP_024308772.1:p.Ser384Cys
XM_024453005.1:c.1132A>T	XP_024308773.1:p.Ser378Cys
XM_024453006.1:c.1069A>T	XP_024308774.1:p.Ser357Cys
XR_001739705.1:n.3607-263T>A
XR_923313.2:n.4043-263T>A
NM_000312.4:c.967A>T MANE Select	NP_000303.1:p.Ser323Cys
NM_001375602.1:c.1150A>T	NP_001362531.1:p.Ser384Cys
NM_001375603.1:c.1132A>T	NP_001362532.1:p.Ser378Cys
NM_001375604.1:c.1030A>T	NP_001362533.1:p.Ser344Cys
NM_001375605.1:c.1069A>T	NP_001362534.1:p.Ser357Cys
NM_001375606.1:c.1135A>T	NP_001362535.1:p.Ser379Cys
NM_001375607.1:c.1153A>T	NP_001362536.1:p.Ser385Cys
NM_001375608.1:c.910A>T	NP_001362537.1:p.Ser304Cys
NM_001375609.1:c.943A>T	NP_001362538.1:p.Ser315Cys
NM_001375610.1:c.961A>T	NP_001362539.1:p.Ser321Cys
NM_001375611.1:c.967A>T	NP_001362540.1:p.Ser323Cys
NM_001375613.1:c.967A>T	NP_001362542.1:p.Ser323Cys