Canonical Allele Identifier: CA211721

Gene: PROC

Linked Data

• ClinVar Variation Id: 161338
• ClinVar RCV Id: RCV000148744 ; RCV002505135 ; RCV003480061
• dbSNP Id: rs376049280
• ExAC: 2:128178948 A / T
• gnomAD v2: 2-128178948-A-T
• gnomAD v3: 2-127421372-A-T
• gnomAD v4: 2-127421372-A-T
• MyVariant Identifiers: chr2:g.128178948A>T (hg19) ; chr2:g.127421372A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127421372A>T , CM000664.2:g.127421372A>T	GRCh38
NC_000002.11:g.128178948A>T , CM000664.1:g.128178948A>T	GRCh37
NC_000002.10:g.127895418A>T	NCBI36
NG_016323.1:g.7953A>T , LRG_599:g.7953A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234071.8:c.160A>T MANE Select	ENSP00000234071.4:p.Ser54Cys
ENST00000234071.7:c.160A>T	ENSP00000234071.3:p.Ser54Cys
ENST00000409048.1:c.160A>T	ENSP00000386679.1:p.Ser54Cys
ENST00000419985.5:c.125A>T	ENSP00000392606.1:p.Gln42Leu
ENST00000427769.5:c.160A>T	ENSP00000406295.1:p.Ser54Cys
ENST00000429925.5:c.160A>T	ENSP00000412697.1:p.Ser54Cys
ENST00000431364.1:c.125A>T	ENSP00000391220.1:p.Gln42Leu
ENST00000442644.5:c.160A>T	ENSP00000411241.1:p.Ser54Cys
ENST00000474030.5:n.243A>T
NM_000312.3:c.160A>T , LRG_599t1:c.160A>T	NP_000303.1:p.Ser54Cys
XM_005263715.3:c.343A>T	XP_005263772.1:p.Ser115Cys
XM_005263716.3:c.223A>T	XP_005263773.1:p.Ser75Cys
XM_005263717.3:c.223A>T	XP_005263774.1:p.Ser75Cys
XM_005263717.4:c.223A>T	XP_005263774.1:p.Ser75Cys
XM_017004505.1:c.403A>T	XP_016859994.1:p.Ser135Cys
XM_024453002.1:c.403A>T	XP_024308770.1:p.Ser135Cys
XM_024453003.1:c.343A>T	XP_024308771.1:p.Ser115Cys
XM_024453004.1:c.343A>T	XP_024308772.1:p.Ser115Cys
XM_024453005.1:c.223A>T	XP_024308773.1:p.Ser75Cys
XM_024453006.1:c.160A>T	XP_024308774.1:p.Ser54Cys
NM_000312.4:c.160A>T MANE Select	NP_000303.1:p.Ser54Cys
NM_001375602.1:c.343A>T	NP_001362531.1:p.Ser115Cys
NM_001375603.1:c.223A>T	NP_001362532.1:p.Ser75Cys
NM_001375604.1:c.223A>T	NP_001362533.1:p.Ser75Cys
NM_001375605.1:c.160A>T	NP_001362534.1:p.Ser54Cys
NM_001375606.1:c.223A>T	NP_001362535.1:p.Ser75Cys
NM_001375607.1:c.244A>T	NP_001362536.1:p.Ser82Cys
NM_001375608.1:c.160A>T	NP_001362537.1:p.Ser54Cys
NM_001375609.1:c.136A>T	NP_001362538.1:p.Ser46Cys
NM_001375610.1:c.154A>T	NP_001362539.1:p.Ser52Cys
NM_001375611.1:c.160A>T	NP_001362540.1:p.Ser54Cys
NM_001375613.1:c.160A>T	NP_001362542.1:p.Ser54Cys