Canonical Allele Identifier: CA348404400

Gene: PROC

Linked Data

• MyVariant Identifiers: chr2:g.128185975T>A (hg19) ; chr2:g.127428399T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127428399T>A , CM000664.2:g.127428399T>A	GRCh38
NC_000002.11:g.128185975T>A , CM000664.1:g.128185975T>A	GRCh37
NC_000002.10:g.127902445T>A	NCBI36
NG_016323.1:g.14980T>A , LRG_599:g.14980T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234071.8:c.839T>A MANE Select	ENSP00000234071.4:p.Leu280Gln
ENST00000234071.7:c.839T>A	ENSP00000234071.3:p.Leu280Gln
ENST00000402125.2:c.163T>A
ENST00000409048.1:c.941T>A	ENSP00000386679.1:p.Leu314Gln
NM_000312.3:c.839T>A , LRG_599t1:c.839T>A	NP_000303.1:p.Leu280Gln
XM_005263715.3:c.1022T>A	XP_005263772.1:p.Leu341Gln
XM_005263716.3:c.1004T>A	XP_005263773.1:p.Leu335Gln
XM_005263717.3:c.902T>A	XP_005263774.1:p.Leu301Gln
XR_923313.1:n.1332-135A>T
XM_005263717.4:c.902T>A	XP_005263774.1:p.Leu301Gln
XM_017004505.1:c.1082T>A	XP_016859994.1:p.Leu361Gln
XM_024453002.1:c.1184T>A	XP_024308770.1:p.Leu395Gln
XM_024453003.1:c.1124T>A	XP_024308771.1:p.Leu375Gln
XM_024453004.1:c.1022T>A	XP_024308772.1:p.Leu341Gln
XM_024453005.1:c.1004T>A	XP_024308773.1:p.Leu335Gln
XM_024453006.1:c.941T>A	XP_024308774.1:p.Leu314Gln
XR_001739705.1:n.3607-135A>T
XR_923313.2:n.4043-135A>T
NM_000312.4:c.839T>A MANE Select	NP_000303.1:p.Leu280Gln
NM_001375602.1:c.1022T>A	NP_001362531.1:p.Leu341Gln
NM_001375603.1:c.1004T>A	NP_001362532.1:p.Leu335Gln
NM_001375604.1:c.902T>A	NP_001362533.1:p.Leu301Gln
NM_001375605.1:c.941T>A	NP_001362534.1:p.Leu314Gln
NM_001375606.1:c.1007T>A	NP_001362535.1:p.Leu336Gln
NM_001375607.1:c.1025T>A	NP_001362536.1:p.Leu342Gln
NM_001375608.1:c.782T>A	NP_001362537.1:p.Leu261Gln
NM_001375609.1:c.815T>A	NP_001362538.1:p.Leu272Gln
NM_001375610.1:c.833T>A	NP_001362539.1:p.Leu278Gln
NM_001375611.1:c.839T>A	NP_001362540.1:p.Leu280Gln
NM_001375613.1:c.839T>A	NP_001362542.1:p.Leu280Gln