Canonical Allele Identifier: CA348406123

Gene: PROC

Linked Data

• MyVariant Identifiers: chr2:g.128186308T>G (hg19) ; chr2:g.127428732T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127428732T>G , CM000664.2:g.127428732T>G	GRCh38
NC_000002.11:g.128186308T>G , CM000664.1:g.128186308T>G	GRCh37
NC_000002.10:g.127902778T>G	NCBI36
NG_016323.1:g.15313T>G , LRG_599:g.15313T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000234071.8:c.1172T>G MANE Select	ENSP00000234071.4:p.Leu391Arg
ENST00000234071.7:c.1172T>G	ENSP00000234071.3:p.Leu391Arg
ENST00000402125.2:c.496T>G
ENST00000409048.1:c.1274T>G	ENSP00000386679.1:p.Leu425Arg
NM_000312.3:c.1172T>G , LRG_599t1:c.1172T>G	NP_000303.1:p.Leu391Arg
XM_005263715.3:c.1355T>G	XP_005263772.1:p.Leu452Arg
XM_005263716.3:c.1337T>G	XP_005263773.1:p.Leu446Arg
XM_005263717.3:c.1235T>G	XP_005263774.1:p.Leu412Arg
XR_923313.1:n.1332-468A>C
XM_005263717.4:c.1235T>G	XP_005263774.1:p.Leu412Arg
XM_017004505.1:c.1415T>G	XP_016859994.1:p.Leu472Arg
XM_024453002.1:c.1517T>G	XP_024308770.1:p.Leu506Arg
XM_024453003.1:c.1457T>G	XP_024308771.1:p.Leu486Arg
XM_024453004.1:c.1355T>G	XP_024308772.1:p.Leu452Arg
XM_024453005.1:c.1337T>G	XP_024308773.1:p.Leu446Arg
XM_024453006.1:c.1274T>G	XP_024308774.1:p.Leu425Arg
XR_001739705.1:n.3607-468A>C
XR_923313.2:n.4043-468A>C
NM_000312.4:c.1172T>G MANE Select	NP_000303.1:p.Leu391Arg
NM_001375602.1:c.1355T>G	NP_001362531.1:p.Leu452Arg
NM_001375603.1:c.1337T>G	NP_001362532.1:p.Leu446Arg
NM_001375604.1:c.1235T>G	NP_001362533.1:p.Leu412Arg
NM_001375605.1:c.1274T>G	NP_001362534.1:p.Leu425Arg
NM_001375606.1:c.1340T>G	NP_001362535.1:p.Leu447Arg
NM_001375607.1:c.1358T>G	NP_001362536.1:p.Leu453Arg
NM_001375608.1:c.1115T>G	NP_001362537.1:p.Leu372Arg
NM_001375609.1:c.1148T>G	NP_001362538.1:p.Leu383Arg
NM_001375610.1:c.1166T>G	NP_001362539.1:p.Leu389Arg
NM_001375611.1:c.1172T>G	NP_001362540.1:p.Leu391Arg
NM_001375613.1:c.1172T>G	NP_001362542.1:p.Leu391Arg