Canonical Allele Identifier: CA348401169

Gene: PROC

Linked Data

• MyVariant Identifiers: chr2:g.128183700A>G (hg19) ; chr2:g.127426124A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127426124A>G , CM000664.2:g.127426124A>G	GRCh38
NC_000002.11:g.128183700A>G , CM000664.1:g.128183700A>G	GRCh37
NC_000002.10:g.127900170A>G	NCBI36
NG_016323.1:g.12705A>G , LRG_599:g.12705A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000234071.8:c.575A>G MANE Select	ENSP00000234071.4:p.Lys192Arg
ENST00000234071.7:c.575A>G	ENSP00000234071.3:p.Lys192Arg
ENST00000402125.2:c.121-2233A>G
ENST00000409048.1:c.677A>G	ENSP00000386679.1:p.Lys226Arg
ENST00000442644.5:c.518A>G	ENSP00000411241.1:p.Lys173Arg
ENST00000464089.1:n.161A>G
NM_000312.3:c.575A>G , LRG_599t1:c.575A>G	NP_000303.1:p.Lys192Arg
XM_005263715.3:c.758A>G	XP_005263772.1:p.Lys253Arg
XM_005263716.3:c.740A>G	XP_005263773.1:p.Lys247Arg
XM_005263717.3:c.638A>G	XP_005263774.1:p.Lys213Arg
XM_005263717.4:c.638A>G	XP_005263774.1:p.Lys213Arg
XM_017004505.1:c.818A>G	XP_016859994.1:p.Lys273Arg
XM_024453002.1:c.920A>G	XP_024308770.1:p.Lys307Arg
XM_024453003.1:c.860A>G	XP_024308771.1:p.Lys287Arg
XM_024453004.1:c.758A>G	XP_024308772.1:p.Lys253Arg
XM_024453005.1:c.740A>G	XP_024308773.1:p.Lys247Arg
XM_024453006.1:c.677A>G	XP_024308774.1:p.Lys226Arg
XR_923313.2:n.4461T>C
NM_000312.4:c.575A>G MANE Select	NP_000303.1:p.Lys192Arg
NM_001375602.1:c.758A>G	NP_001362531.1:p.Lys253Arg
NM_001375603.1:c.740A>G	NP_001362532.1:p.Lys247Arg
NM_001375604.1:c.638A>G	NP_001362533.1:p.Lys213Arg
NM_001375605.1:c.677A>G	NP_001362534.1:p.Lys226Arg
NM_001375606.1:c.743A>G	NP_001362535.1:p.Lys248Arg
NM_001375607.1:c.761A>G	NP_001362536.1:p.Lys254Arg
NM_001375608.1:c.518A>G	NP_001362537.1:p.Lys173Arg
NM_001375609.1:c.551A>G	NP_001362538.1:p.Lys184Arg
NM_001375610.1:c.569A>G	NP_001362539.1:p.Lys190Arg
NM_001375611.1:c.575A>G	NP_001362540.1:p.Lys192Arg
NM_001375613.1:c.575A>G	NP_001362542.1:p.Lys192Arg