Canonical Allele Identifier: CA348405531

Gene: PROC

Linked Data

• MyVariant Identifiers: chr2:g.128186162G>T (hg19) ; chr2:g.127428586G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127428586G>T , CM000664.2:g.127428586G>T	GRCh38
NC_000002.11:g.128186162G>T , CM000664.1:g.128186162G>T	GRCh37
NC_000002.10:g.127902632G>T	NCBI36
NG_016323.1:g.15167G>T , LRG_599:g.15167G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234071.8:c.1026G>T MANE Select	ENSP00000234071.4:p.Trp342Cys
ENST00000234071.7:c.1026G>T	ENSP00000234071.3:p.Trp342Cys
ENST00000402125.2:c.350G>T
ENST00000409048.1:c.1128G>T	ENSP00000386679.1:p.Trp376Cys
NM_000312.3:c.1026G>T , LRG_599t1:c.1026G>T	NP_000303.1:p.Trp342Cys
XM_005263715.3:c.1209G>T	XP_005263772.1:p.Trp403Cys
XM_005263716.3:c.1191G>T	XP_005263773.1:p.Trp397Cys
XM_005263717.3:c.1089G>T	XP_005263774.1:p.Trp363Cys
XR_923313.1:n.1332-322C>A
XM_005263717.4:c.1089G>T	XP_005263774.1:p.Trp363Cys
XM_017004505.1:c.1269G>T	XP_016859994.1:p.Trp423Cys
XM_024453002.1:c.1371G>T	XP_024308770.1:p.Trp457Cys
XM_024453003.1:c.1311G>T	XP_024308771.1:p.Trp437Cys
XM_024453004.1:c.1209G>T	XP_024308772.1:p.Trp403Cys
XM_024453005.1:c.1191G>T	XP_024308773.1:p.Trp397Cys
XM_024453006.1:c.1128G>T	XP_024308774.1:p.Trp376Cys
XR_001739705.1:n.3607-322C>A
XR_923313.2:n.4043-322C>A
NM_000312.4:c.1026G>T MANE Select	NP_000303.1:p.Trp342Cys
NM_001375602.1:c.1209G>T	NP_001362531.1:p.Trp403Cys
NM_001375603.1:c.1191G>T	NP_001362532.1:p.Trp397Cys
NM_001375604.1:c.1089G>T	NP_001362533.1:p.Trp363Cys
NM_001375605.1:c.1128G>T	NP_001362534.1:p.Trp376Cys
NM_001375606.1:c.1194G>T	NP_001362535.1:p.Trp398Cys
NM_001375607.1:c.1212G>T	NP_001362536.1:p.Trp404Cys
NM_001375608.1:c.969G>T	NP_001362537.1:p.Trp323Cys
NM_001375609.1:c.1002G>T	NP_001362538.1:p.Trp334Cys
NM_001375610.1:c.1020G>T	NP_001362539.1:p.Trp340Cys
NM_001375611.1:c.1026G>T	NP_001362540.1:p.Trp342Cys
NM_001375613.1:c.1026G>T	NP_001362542.1:p.Trp342Cys