Canonical Allele Identifier: CA348405606

Gene: PROC

Linked Data

• MyVariant Identifiers: chr2:g.128186176G>C (hg19) ; chr2:g.127428600G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127428600G>C , CM000664.2:g.127428600G>C	GRCh38
NC_000002.11:g.128186176G>C , CM000664.1:g.128186176G>C	GRCh37
NC_000002.10:g.127902646G>C	NCBI36
NG_016323.1:g.15181G>C , LRG_599:g.15181G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234071.8:c.1040G>C MANE Select	ENSP00000234071.4:p.Ser347Thr
ENST00000234071.7:c.1040G>C	ENSP00000234071.3:p.Ser347Thr
ENST00000402125.2:c.364G>C
ENST00000409048.1:c.1142G>C	ENSP00000386679.1:p.Ser381Thr
NM_000312.3:c.1040G>C , LRG_599t1:c.1040G>C	NP_000303.1:p.Ser347Thr
XM_005263715.3:c.1223G>C	XP_005263772.1:p.Ser408Thr
XM_005263716.3:c.1205G>C	XP_005263773.1:p.Ser402Thr
XM_005263717.3:c.1103G>C	XP_005263774.1:p.Ser368Thr
XR_923313.1:n.1332-336C>G
XM_005263717.4:c.1103G>C	XP_005263774.1:p.Ser368Thr
XM_017004505.1:c.1283G>C	XP_016859994.1:p.Ser428Thr
XM_024453002.1:c.1385G>C	XP_024308770.1:p.Ser462Thr
XM_024453003.1:c.1325G>C	XP_024308771.1:p.Ser442Thr
XM_024453004.1:c.1223G>C	XP_024308772.1:p.Ser408Thr
XM_024453005.1:c.1205G>C	XP_024308773.1:p.Ser402Thr
XM_024453006.1:c.1142G>C	XP_024308774.1:p.Ser381Thr
XR_001739705.1:n.3607-336C>G
XR_923313.2:n.4043-336C>G
NM_000312.4:c.1040G>C MANE Select	NP_000303.1:p.Ser347Thr
NM_001375602.1:c.1223G>C	NP_001362531.1:p.Ser408Thr
NM_001375603.1:c.1205G>C	NP_001362532.1:p.Ser402Thr
NM_001375604.1:c.1103G>C	NP_001362533.1:p.Ser368Thr
NM_001375605.1:c.1142G>C	NP_001362534.1:p.Ser381Thr
NM_001375606.1:c.1208G>C	NP_001362535.1:p.Ser403Thr
NM_001375607.1:c.1226G>C	NP_001362536.1:p.Ser409Thr
NM_001375608.1:c.983G>C	NP_001362537.1:p.Ser328Thr
NM_001375609.1:c.1016G>C	NP_001362538.1:p.Ser339Thr
NM_001375610.1:c.1034G>C	NP_001362539.1:p.Ser345Thr
NM_001375611.1:c.1040G>C	NP_001362540.1:p.Ser347Thr
NM_001375613.1:c.1040G>C	NP_001362542.1:p.Ser347Thr