Canonical Allele Identifier: CA348404542

Gene: PROC

Linked Data

• MyVariant Identifiers: chr2:g.128186005A>C (hg19) ; chr2:g.127428429A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127428429A>C , CM000664.2:g.127428429A>C	GRCh38
NC_000002.11:g.128186005A>C , CM000664.1:g.128186005A>C	GRCh37
NC_000002.10:g.127902475A>C	NCBI36
NG_016323.1:g.15010A>C , LRG_599:g.15010A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234071.8:c.869A>C MANE Select	ENSP00000234071.4:p.Asn290Thr
ENST00000234071.7:c.869A>C	ENSP00000234071.3:p.Asn290Thr
ENST00000402125.2:c.193A>C
ENST00000409048.1:c.971A>C	ENSP00000386679.1:p.Asn324Thr
NM_000312.3:c.869A>C , LRG_599t1:c.869A>C	NP_000303.1:p.Asn290Thr
XM_005263715.3:c.1052A>C	XP_005263772.1:p.Asn351Thr
XM_005263716.3:c.1034A>C	XP_005263773.1:p.Asn345Thr
XM_005263717.3:c.932A>C	XP_005263774.1:p.Asn311Thr
XR_923313.1:n.1332-165T>G
XM_005263717.4:c.932A>C	XP_005263774.1:p.Asn311Thr
XM_017004505.1:c.1112A>C	XP_016859994.1:p.Asn371Thr
XM_024453002.1:c.1214A>C	XP_024308770.1:p.Asn405Thr
XM_024453003.1:c.1154A>C	XP_024308771.1:p.Asn385Thr
XM_024453004.1:c.1052A>C	XP_024308772.1:p.Asn351Thr
XM_024453005.1:c.1034A>C	XP_024308773.1:p.Asn345Thr
XM_024453006.1:c.971A>C	XP_024308774.1:p.Asn324Thr
XR_001739705.1:n.3607-165T>G
XR_923313.2:n.4043-165T>G
NM_000312.4:c.869A>C MANE Select	NP_000303.1:p.Asn290Thr
NM_001375602.1:c.1052A>C	NP_001362531.1:p.Asn351Thr
NM_001375603.1:c.1034A>C	NP_001362532.1:p.Asn345Thr
NM_001375604.1:c.932A>C	NP_001362533.1:p.Asn311Thr
NM_001375605.1:c.971A>C	NP_001362534.1:p.Asn324Thr
NM_001375606.1:c.1037A>C	NP_001362535.1:p.Asn346Thr
NM_001375607.1:c.1055A>C	NP_001362536.1:p.Asn352Thr
NM_001375608.1:c.812A>C	NP_001362537.1:p.Asn271Thr
NM_001375609.1:c.845A>C	NP_001362538.1:p.Asn282Thr
NM_001375610.1:c.863A>C	NP_001362539.1:p.Asn288Thr
NM_001375611.1:c.869A>C	NP_001362540.1:p.Asn290Thr
NM_001375613.1:c.869A>C	NP_001362542.1:p.Asn290Thr