Canonical Allele Identifier: CA348405552

Gene: PROC

Linked Data

• MyVariant Identifiers: chr2:g.128186167A>T (hg19) ; chr2:g.127428591A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127428591A>T , CM000664.2:g.127428591A>T	GRCh38
NC_000002.11:g.128186167A>T , CM000664.1:g.128186167A>T	GRCh37
NC_000002.10:g.127902637A>T	NCBI36
NG_016323.1:g.15172A>T , LRG_599:g.15172A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234071.8:c.1031A>T MANE Select	ENSP00000234071.4:p.Tyr344Phe
ENST00000234071.7:c.1031A>T	ENSP00000234071.3:p.Tyr344Phe
ENST00000402125.2:c.355A>T
ENST00000409048.1:c.1133A>T	ENSP00000386679.1:p.Tyr378Phe
NM_000312.3:c.1031A>T , LRG_599t1:c.1031A>T	NP_000303.1:p.Tyr344Phe
XM_005263715.3:c.1214A>T	XP_005263772.1:p.Tyr405Phe
XM_005263716.3:c.1196A>T	XP_005263773.1:p.Tyr399Phe
XM_005263717.3:c.1094A>T	XP_005263774.1:p.Tyr365Phe
XR_923313.1:n.1332-327T>A
XM_005263717.4:c.1094A>T	XP_005263774.1:p.Tyr365Phe
XM_017004505.1:c.1274A>T	XP_016859994.1:p.Tyr425Phe
XM_024453002.1:c.1376A>T	XP_024308770.1:p.Tyr459Phe
XM_024453003.1:c.1316A>T	XP_024308771.1:p.Tyr439Phe
XM_024453004.1:c.1214A>T	XP_024308772.1:p.Tyr405Phe
XM_024453005.1:c.1196A>T	XP_024308773.1:p.Tyr399Phe
XM_024453006.1:c.1133A>T	XP_024308774.1:p.Tyr378Phe
XR_001739705.1:n.3607-327T>A
XR_923313.2:n.4043-327T>A
NM_000312.4:c.1031A>T MANE Select	NP_000303.1:p.Tyr344Phe
NM_001375602.1:c.1214A>T	NP_001362531.1:p.Tyr405Phe
NM_001375603.1:c.1196A>T	NP_001362532.1:p.Tyr399Phe
NM_001375604.1:c.1094A>T	NP_001362533.1:p.Tyr365Phe
NM_001375605.1:c.1133A>T	NP_001362534.1:p.Tyr378Phe
NM_001375606.1:c.1199A>T	NP_001362535.1:p.Tyr400Phe
NM_001375607.1:c.1217A>T	NP_001362536.1:p.Tyr406Phe
NM_001375608.1:c.974A>T	NP_001362537.1:p.Tyr325Phe
NM_001375609.1:c.1007A>T	NP_001362538.1:p.Tyr336Phe
NM_001375610.1:c.1025A>T	NP_001362539.1:p.Tyr342Phe
NM_001375611.1:c.1031A>T	NP_001362540.1:p.Tyr344Phe
NM_001375613.1:c.1031A>T	NP_001362542.1:p.Tyr344Phe