Canonical Allele Identifier: CA348401313

Gene: PROC

Linked Data

• MyVariant Identifiers: chr2:g.128183721G>T (hg19) ; chr2:g.127426145G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127426145G>T , CM000664.2:g.127426145G>T	GRCh38
NC_000002.11:g.128183721G>T , CM000664.1:g.128183721G>T	GRCh37
NC_000002.10:g.127900191G>T	NCBI36
NG_016323.1:g.12726G>T , LRG_599:g.12726G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234071.8:c.596G>T MANE Select	ENSP00000234071.4:p.Arg199Leu
ENST00000234071.7:c.596G>T	ENSP00000234071.3:p.Arg199Leu
ENST00000402125.2:c.121-2212G>T
ENST00000409048.1:c.698G>T	ENSP00000386679.1:p.Arg233Leu
ENST00000464089.1:n.182G>T
NM_000312.3:c.596G>T , LRG_599t1:c.596G>T	NP_000303.1:p.Arg199Leu
XM_005263715.3:c.779G>T	XP_005263772.1:p.Arg260Leu
XM_005263716.3:c.761G>T	XP_005263773.1:p.Arg254Leu
XM_005263717.3:c.659G>T	XP_005263774.1:p.Arg220Leu
XM_005263717.4:c.659G>T	XP_005263774.1:p.Arg220Leu
XM_017004505.1:c.839G>T	XP_016859994.1:p.Arg280Leu
XM_024453002.1:c.941G>T	XP_024308770.1:p.Arg314Leu
XM_024453003.1:c.881G>T	XP_024308771.1:p.Arg294Leu
XM_024453004.1:c.779G>T	XP_024308772.1:p.Arg260Leu
XM_024453005.1:c.761G>T	XP_024308773.1:p.Arg254Leu
XM_024453006.1:c.698G>T	XP_024308774.1:p.Arg233Leu
XR_923313.2:n.4440C>A
NM_000312.4:c.596G>T MANE Select	NP_000303.1:p.Arg199Leu
NM_001375602.1:c.779G>T	NP_001362531.1:p.Arg260Leu
NM_001375603.1:c.761G>T	NP_001362532.1:p.Arg254Leu
NM_001375604.1:c.659G>T	NP_001362533.1:p.Arg220Leu
NM_001375605.1:c.698G>T	NP_001362534.1:p.Arg233Leu
NM_001375606.1:c.764G>T	NP_001362535.1:p.Arg255Leu
NM_001375607.1:c.782G>T	NP_001362536.1:p.Arg261Leu
NM_001375608.1:c.539G>T	NP_001362537.1:p.Arg180Leu
NM_001375609.1:c.572G>T	NP_001362538.1:p.Arg191Leu
NM_001375610.1:c.590G>T	NP_001362539.1:p.Arg197Leu
NM_001375611.1:c.596G>T	NP_001362540.1:p.Arg199Leu
NM_001375613.1:c.596G>T	NP_001362542.1:p.Arg199Leu