Canonical Allele Identifier: CA348406688

Gene: PROC

Linked Data

• MyVariant Identifiers: chr2:g.128186469A>T (hg19) ; chr2:g.127428893A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127428893A>T , CM000664.2:g.127428893A>T	GRCh38
NC_000002.11:g.128186469A>T , CM000664.1:g.128186469A>T	GRCh37
NC_000002.10:g.127902939A>T	NCBI36
NG_016323.1:g.15474A>T , LRG_599:g.15474A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234071.8:c.1333A>T MANE Select	ENSP00000234071.4:p.Ile445Phe
ENST00000234071.7:c.1333A>T	ENSP00000234071.3:p.Ile445Phe
ENST00000402125.2:c.657A>T
ENST00000409048.1:c.1435A>T	ENSP00000386679.1:p.Ile479Phe
NM_000312.3:c.1333A>T , LRG_599t1:c.1333A>T	NP_000303.1:p.Ile445Phe
XM_005263715.3:c.1516A>T	XP_005263772.1:p.Ile506Phe
XM_005263716.3:c.1498A>T	XP_005263773.1:p.Ile500Phe
XM_005263717.3:c.1396A>T	XP_005263774.1:p.Ile466Phe
XR_923313.1:n.1332-629T>A
XM_005263717.4:c.1396A>T	XP_005263774.1:p.Ile466Phe
XM_017004505.1:c.1576A>T	XP_016859994.1:p.Ile526Phe
XM_024453002.1:c.1678A>T	XP_024308770.1:p.Ile560Phe
XM_024453003.1:c.1618A>T	XP_024308771.1:p.Ile540Phe
XM_024453004.1:c.1516A>T	XP_024308772.1:p.Ile506Phe
XM_024453005.1:c.1498A>T	XP_024308773.1:p.Ile500Phe
XM_024453006.1:c.1435A>T	XP_024308774.1:p.Ile479Phe
XR_001739705.1:n.3607-629T>A
XR_923313.2:n.4043-629T>A
NM_000312.4:c.1333A>T MANE Select	NP_000303.1:p.Ile445Phe
NM_001375602.1:c.1516A>T	NP_001362531.1:p.Ile506Phe
NM_001375603.1:c.1498A>T	NP_001362532.1:p.Ile500Phe
NM_001375604.1:c.1396A>T	NP_001362533.1:p.Ile466Phe
NM_001375605.1:c.1435A>T	NP_001362534.1:p.Ile479Phe
NM_001375606.1:c.1501A>T	NP_001362535.1:p.Ile501Phe
NM_001375607.1:c.1519A>T	NP_001362536.1:p.Ile507Phe
NM_001375608.1:c.1276A>T	NP_001362537.1:p.Ile426Phe
NM_001375609.1:c.1309A>T	NP_001362538.1:p.Ile437Phe
NM_001375610.1:c.1327A>T	NP_001362539.1:p.Ile443Phe
NM_001375611.1:c.1333A>T	NP_001362540.1:p.Ile445Phe
NM_001375613.1:c.1333A>T	NP_001362542.1:p.Ile445Phe