Canonical Allele Identifier: CA348401801

Gene: PROC

Linked Data

• MyVariant Identifiers: chr2:g.128183800G>T (hg19) ; chr2:g.127426224G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127426224G>T , CM000664.2:g.127426224G>T	GRCh38
NC_000002.11:g.128183800G>T , CM000664.1:g.128183800G>T	GRCh37
NC_000002.10:g.127900270G>T	NCBI36
NG_016323.1:g.12805G>T , LRG_599:g.12805G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234071.8:c.675G>T MANE Select	ENSP00000234071.4:p.Trp225Cys
ENST00000234071.7:c.675G>T	ENSP00000234071.3:p.Trp225Cys
ENST00000402125.2:c.121-2133G>T
ENST00000409048.1:c.777G>T	ENSP00000386679.1:p.Trp259Cys
ENST00000464089.1:n.261G>T
NM_000312.3:c.675G>T , LRG_599t1:c.675G>T	NP_000303.1:p.Trp225Cys
XM_005263715.3:c.858G>T	XP_005263772.1:p.Trp286Cys
XM_005263716.3:c.840G>T	XP_005263773.1:p.Trp280Cys
XM_005263717.3:c.738G>T	XP_005263774.1:p.Trp246Cys
XM_005263717.4:c.738G>T	XP_005263774.1:p.Trp246Cys
XM_017004505.1:c.918G>T	XP_016859994.1:p.Trp306Cys
XM_024453002.1:c.1020G>T	XP_024308770.1:p.Trp340Cys
XM_024453003.1:c.960G>T	XP_024308771.1:p.Trp320Cys
XM_024453004.1:c.858G>T	XP_024308772.1:p.Trp286Cys
XM_024453005.1:c.840G>T	XP_024308773.1:p.Trp280Cys
XM_024453006.1:c.777G>T	XP_024308774.1:p.Trp259Cys
XR_923313.2:n.4361C>A
NM_000312.4:c.675G>T MANE Select	NP_000303.1:p.Trp225Cys
NM_001375602.1:c.858G>T	NP_001362531.1:p.Trp286Cys
NM_001375603.1:c.840G>T	NP_001362532.1:p.Trp280Cys
NM_001375604.1:c.738G>T	NP_001362533.1:p.Trp246Cys
NM_001375605.1:c.777G>T	NP_001362534.1:p.Trp259Cys
NM_001375606.1:c.843G>T	NP_001362535.1:p.Trp281Cys
NM_001375607.1:c.861G>T	NP_001362536.1:p.Trp287Cys
NM_001375608.1:c.618G>T	NP_001362537.1:p.Trp206Cys
NM_001375609.1:c.651G>T	NP_001362538.1:p.Trp217Cys
NM_001375610.1:c.669G>T	NP_001362539.1:p.Trp223Cys
NM_001375611.1:c.675G>T	NP_001362540.1:p.Trp225Cys
NM_001375613.1:c.675G>T	NP_001362542.1:p.Trp225Cys