Canonical Allele Identifier: CA348405609

Gene: PROC

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234071.8:c.1040G>T MANE Select	ENSP00000234071.4:p.Ser347Ile
ENST00000234071.7:c.1040G>T	ENSP00000234071.3:p.Ser347Ile
ENST00000402125.2:c.364G>T
ENST00000409048.1:c.1142G>T	ENSP00000386679.1:p.Ser381Ile
NM_000312.3:c.1040G>T , LRG_599t1:c.1040G>T	NP_000303.1:p.Ser347Ile
XM_005263715.3:c.1223G>T	XP_005263772.1:p.Ser408Ile
XM_005263716.3:c.1205G>T	XP_005263773.1:p.Ser402Ile
XM_005263717.3:c.1103G>T	XP_005263774.1:p.Ser368Ile
XR_923313.1:n.1332-336C>A
XM_005263717.4:c.1103G>T	XP_005263774.1:p.Ser368Ile
XM_017004505.1:c.1283G>T	XP_016859994.1:p.Ser428Ile
XM_024453002.1:c.1385G>T	XP_024308770.1:p.Ser462Ile
XM_024453003.1:c.1325G>T	XP_024308771.1:p.Ser442Ile
XM_024453004.1:c.1223G>T	XP_024308772.1:p.Ser408Ile
XM_024453005.1:c.1205G>T	XP_024308773.1:p.Ser402Ile
XM_024453006.1:c.1142G>T	XP_024308774.1:p.Ser381Ile
XR_001739705.1:n.3607-336C>A
XR_923313.2:n.4043-336C>A
NM_000312.4:c.1040G>T MANE Select	NP_000303.1:p.Ser347Ile
NM_001375602.1:c.1223G>T	NP_001362531.1:p.Ser408Ile
NM_001375603.1:c.1205G>T	NP_001362532.1:p.Ser402Ile
NM_001375604.1:c.1103G>T	NP_001362533.1:p.Ser368Ile
NM_001375605.1:c.1142G>T	NP_001362534.1:p.Ser381Ile
NM_001375606.1:c.1208G>T	NP_001362535.1:p.Ser403Ile
NM_001375607.1:c.1226G>T	NP_001362536.1:p.Ser409Ile
NM_001375608.1:c.983G>T	NP_001362537.1:p.Ser328Ile
NM_001375609.1:c.1016G>T	NP_001362538.1:p.Ser339Ile
NM_001375610.1:c.1034G>T	NP_001362539.1:p.Ser345Ile
NM_001375611.1:c.1040G>T	NP_001362540.1:p.Ser347Ile
NM_001375613.1:c.1040G>T	NP_001362542.1:p.Ser347Ile