Canonical Allele Identifier: CA348401194

Gene: PROC

Linked Data

• MyVariant Identifiers: chr2:g.128183703A>G (hg19) ; chr2:g.127426127A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127426127A>G , CM000664.2:g.127426127A>G	GRCh38
NC_000002.11:g.128183703A>G , CM000664.1:g.128183703A>G	GRCh37
NC_000002.10:g.127900173A>G	NCBI36
NG_016323.1:g.12708A>G , LRG_599:g.12708A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234071.8:c.578A>G MANE Select	ENSP00000234071.4:p.Lys193Arg
ENST00000234071.7:c.578A>G	ENSP00000234071.3:p.Lys193Arg
ENST00000402125.2:c.121-2230A>G
ENST00000409048.1:c.680A>G	ENSP00000386679.1:p.Lys227Arg
ENST00000442644.5:c.521A>G	ENSP00000411241.1:p.Lys174Arg
ENST00000464089.1:n.164A>G
NM_000312.3:c.578A>G , LRG_599t1:c.578A>G	NP_000303.1:p.Lys193Arg
XM_005263715.3:c.761A>G	XP_005263772.1:p.Lys254Arg
XM_005263716.3:c.743A>G	XP_005263773.1:p.Lys248Arg
XM_005263717.3:c.641A>G	XP_005263774.1:p.Lys214Arg
XM_005263717.4:c.641A>G	XP_005263774.1:p.Lys214Arg
XM_017004505.1:c.821A>G	XP_016859994.1:p.Lys274Arg
XM_024453002.1:c.923A>G	XP_024308770.1:p.Lys308Arg
XM_024453003.1:c.863A>G	XP_024308771.1:p.Lys288Arg
XM_024453004.1:c.761A>G	XP_024308772.1:p.Lys254Arg
XM_024453005.1:c.743A>G	XP_024308773.1:p.Lys248Arg
XM_024453006.1:c.680A>G	XP_024308774.1:p.Lys227Arg
XR_923313.2:n.4458T>C
NM_000312.4:c.578A>G MANE Select	NP_000303.1:p.Lys193Arg
NM_001375602.1:c.761A>G	NP_001362531.1:p.Lys254Arg
NM_001375603.1:c.743A>G	NP_001362532.1:p.Lys248Arg
NM_001375604.1:c.641A>G	NP_001362533.1:p.Lys214Arg
NM_001375605.1:c.680A>G	NP_001362534.1:p.Lys227Arg
NM_001375606.1:c.746A>G	NP_001362535.1:p.Lys249Arg
NM_001375607.1:c.764A>G	NP_001362536.1:p.Lys255Arg
NM_001375608.1:c.521A>G	NP_001362537.1:p.Lys174Arg
NM_001375609.1:c.554A>G	NP_001362538.1:p.Lys185Arg
NM_001375610.1:c.572A>G	NP_001362539.1:p.Lys191Arg
NM_001375611.1:c.578A>G	NP_001362540.1:p.Lys193Arg
NM_001375613.1:c.578A>G	NP_001362542.1:p.Lys193Arg