Canonical Allele Identifier: CA348401133

Gene: PROC

Linked Data

• gnomAD v4: 2-127426120-G-A
• MyVariant Identifiers: chr2:g.128183696G>A (hg19) ; chr2:g.127426120G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127426120G>A , CM000664.2:g.127426120G>A	GRCh38
NC_000002.11:g.128183696G>A , CM000664.1:g.128183696G>A	GRCh37
NC_000002.10:g.127900166G>A	NCBI36
NG_016323.1:g.12701G>A , LRG_599:g.12701G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234071.8:c.571G>A MANE Select	ENSP00000234071.4:p.Glu191Lys
ENST00000234071.7:c.571G>A	ENSP00000234071.3:p.Glu191Lys
ENST00000402125.2:c.121-2237G>A
ENST00000409048.1:c.673G>A	ENSP00000386679.1:p.Glu225Lys
ENST00000442644.5:c.514G>A	ENSP00000411241.1:p.Glu172Lys
ENST00000464089.1:n.157G>A
NM_000312.3:c.571G>A , LRG_599t1:c.571G>A	NP_000303.1:p.Glu191Lys
XM_005263715.3:c.754G>A	XP_005263772.1:p.Glu252Lys
XM_005263716.3:c.736G>A	XP_005263773.1:p.Glu246Lys
XM_005263717.3:c.634G>A	XP_005263774.1:p.Glu212Lys
XM_005263717.4:c.634G>A	XP_005263774.1:p.Glu212Lys
XM_017004505.1:c.814G>A	XP_016859994.1:p.Glu272Lys
XM_024453002.1:c.916G>A	XP_024308770.1:p.Glu306Lys
XM_024453003.1:c.856G>A	XP_024308771.1:p.Glu286Lys
XM_024453004.1:c.754G>A	XP_024308772.1:p.Glu252Lys
XM_024453005.1:c.736G>A	XP_024308773.1:p.Glu246Lys
XM_024453006.1:c.673G>A	XP_024308774.1:p.Glu225Lys
XR_923313.2:n.4465C>T
NM_000312.4:c.571G>A MANE Select	NP_000303.1:p.Glu191Lys
NM_001375602.1:c.754G>A	NP_001362531.1:p.Glu252Lys
NM_001375603.1:c.736G>A	NP_001362532.1:p.Glu246Lys
NM_001375604.1:c.634G>A	NP_001362533.1:p.Glu212Lys
NM_001375605.1:c.673G>A	NP_001362534.1:p.Glu225Lys
NM_001375606.1:c.739G>A	NP_001362535.1:p.Glu247Lys
NM_001375607.1:c.757G>A	NP_001362536.1:p.Glu253Lys
NM_001375608.1:c.514G>A	NP_001362537.1:p.Glu172Lys
NM_001375609.1:c.547G>A	NP_001362538.1:p.Glu183Lys
NM_001375610.1:c.565G>A	NP_001362539.1:p.Glu189Lys
NM_001375611.1:c.571G>A	NP_001362540.1:p.Glu191Lys
NM_001375613.1:c.571G>A	NP_001362542.1:p.Glu191Lys