Canonical Allele Identifier: CA348405697

Gene: PROC

Linked Data

• MyVariant Identifiers: chr2:g.128186206C>A (hg19) ; chr2:g.127428630C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127428630C>A , CM000664.2:g.127428630C>A	GRCh38
NC_000002.11:g.128186206C>A , CM000664.1:g.128186206C>A	GRCh37
NC_000002.10:g.127902676C>A	NCBI36
NG_016323.1:g.15211C>A , LRG_599:g.15211C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000234071.8:c.1070C>A MANE Select	ENSP00000234071.4:p.Thr357Asn
ENST00000234071.7:c.1070C>A	ENSP00000234071.3:p.Thr357Asn
ENST00000402125.2:c.394C>A
ENST00000409048.1:c.1172C>A	ENSP00000386679.1:p.Thr391Asn
NM_000312.3:c.1070C>A , LRG_599t1:c.1070C>A	NP_000303.1:p.Thr357Asn
XM_005263715.3:c.1253C>A	XP_005263772.1:p.Thr418Asn
XM_005263716.3:c.1235C>A	XP_005263773.1:p.Thr412Asn
XM_005263717.3:c.1133C>A	XP_005263774.1:p.Thr378Asn
XR_923313.1:n.1332-366G>T
XM_005263717.4:c.1133C>A	XP_005263774.1:p.Thr378Asn
XM_017004505.1:c.1313C>A	XP_016859994.1:p.Thr438Asn
XM_024453002.1:c.1415C>A	XP_024308770.1:p.Thr472Asn
XM_024453003.1:c.1355C>A	XP_024308771.1:p.Thr452Asn
XM_024453004.1:c.1253C>A	XP_024308772.1:p.Thr418Asn
XM_024453005.1:c.1235C>A	XP_024308773.1:p.Thr412Asn
XM_024453006.1:c.1172C>A	XP_024308774.1:p.Thr391Asn
XR_001739705.1:n.3607-366G>T
XR_923313.2:n.4043-366G>T
NM_000312.4:c.1070C>A MANE Select	NP_000303.1:p.Thr357Asn
NM_001375602.1:c.1253C>A	NP_001362531.1:p.Thr418Asn
NM_001375603.1:c.1235C>A	NP_001362532.1:p.Thr412Asn
NM_001375604.1:c.1133C>A	NP_001362533.1:p.Thr378Asn
NM_001375605.1:c.1172C>A	NP_001362534.1:p.Thr391Asn
NM_001375606.1:c.1238C>A	NP_001362535.1:p.Thr413Asn
NM_001375607.1:c.1256C>A	NP_001362536.1:p.Thr419Asn
NM_001375608.1:c.1013C>A	NP_001362537.1:p.Thr338Asn
NM_001375609.1:c.1046C>A	NP_001362538.1:p.Thr349Asn
NM_001375610.1:c.1064C>A	NP_001362539.1:p.Thr355Asn
NM_001375611.1:c.1070C>A	NP_001362540.1:p.Thr357Asn
NM_001375613.1:c.1070C>A	NP_001362542.1:p.Thr357Asn