Canonical Allele Identifier: CA348406641

Gene: PROC

Linked Data

• MyVariant Identifiers: chr2:g.128186448G>T (hg19) ; chr2:g.127428872G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127428872G>T , CM000664.2:g.127428872G>T	GRCh38
NC_000002.11:g.128186448G>T , CM000664.1:g.128186448G>T	GRCh37
NC_000002.10:g.127902918G>T	NCBI36
NG_016323.1:g.15453G>T , LRG_599:g.15453G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234071.8:c.1312G>T MANE Select	ENSP00000234071.4:p.Val438Phe
ENST00000234071.7:c.1312G>T	ENSP00000234071.3:p.Val438Phe
ENST00000402125.2:c.636G>T
ENST00000409048.1:c.1414G>T	ENSP00000386679.1:p.Val472Phe
NM_000312.3:c.1312G>T , LRG_599t1:c.1312G>T	NP_000303.1:p.Val438Phe
XM_005263715.3:c.1495G>T	XP_005263772.1:p.Val499Phe
XM_005263716.3:c.1477G>T	XP_005263773.1:p.Val493Phe
XM_005263717.3:c.1375G>T	XP_005263774.1:p.Val459Phe
XR_923313.1:n.1332-608C>A
XM_005263717.4:c.1375G>T	XP_005263774.1:p.Val459Phe
XM_017004505.1:c.1555G>T	XP_016859994.1:p.Val519Phe
XM_024453002.1:c.1657G>T	XP_024308770.1:p.Val553Phe
XM_024453003.1:c.1597G>T	XP_024308771.1:p.Val533Phe
XM_024453004.1:c.1495G>T	XP_024308772.1:p.Val499Phe
XM_024453005.1:c.1477G>T	XP_024308773.1:p.Val493Phe
XM_024453006.1:c.1414G>T	XP_024308774.1:p.Val472Phe
XR_001739705.1:n.3607-608C>A
XR_923313.2:n.4043-608C>A
NM_000312.4:c.1312G>T MANE Select	NP_000303.1:p.Val438Phe
NM_001375602.1:c.1495G>T	NP_001362531.1:p.Val499Phe
NM_001375603.1:c.1477G>T	NP_001362532.1:p.Val493Phe
NM_001375604.1:c.1375G>T	NP_001362533.1:p.Val459Phe
NM_001375605.1:c.1414G>T	NP_001362534.1:p.Val472Phe
NM_001375606.1:c.1480G>T	NP_001362535.1:p.Val494Phe
NM_001375607.1:c.1498G>T	NP_001362536.1:p.Val500Phe
NM_001375608.1:c.1255G>T	NP_001362537.1:p.Val419Phe
NM_001375609.1:c.1288G>T	NP_001362538.1:p.Val430Phe
NM_001375610.1:c.1306G>T	NP_001362539.1:p.Val436Phe
NM_001375611.1:c.1312G>T	NP_001362540.1:p.Val438Phe
NM_001375613.1:c.1312G>T	NP_001362542.1:p.Val438Phe