Canonical Allele Identifier: CA348401154

Gene: PROC

Linked Data

• MyVariant Identifiers: chr2:g.128183698G>C (hg19) ; chr2:g.127426122G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127426122G>C , CM000664.2:g.127426122G>C	GRCh38
NC_000002.11:g.128183698G>C , CM000664.1:g.128183698G>C	GRCh37
NC_000002.10:g.127900168G>C	NCBI36
NG_016323.1:g.12703G>C , LRG_599:g.12703G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234071.8:c.573G>C MANE Select	ENSP00000234071.4:p.Glu191Asp
ENST00000234071.7:c.573G>C	ENSP00000234071.3:p.Glu191Asp
ENST00000402125.2:c.121-2235G>C
ENST00000409048.1:c.675G>C	ENSP00000386679.1:p.Glu225Asp
ENST00000442644.5:c.516G>C	ENSP00000411241.1:p.Glu172Asp
ENST00000464089.1:n.159G>C
NM_000312.3:c.573G>C , LRG_599t1:c.573G>C	NP_000303.1:p.Glu191Asp
XM_005263715.3:c.756G>C	XP_005263772.1:p.Glu252Asp
XM_005263716.3:c.738G>C	XP_005263773.1:p.Glu246Asp
XM_005263717.3:c.636G>C	XP_005263774.1:p.Glu212Asp
XM_005263717.4:c.636G>C	XP_005263774.1:p.Glu212Asp
XM_017004505.1:c.816G>C	XP_016859994.1:p.Glu272Asp
XM_024453002.1:c.918G>C	XP_024308770.1:p.Glu306Asp
XM_024453003.1:c.858G>C	XP_024308771.1:p.Glu286Asp
XM_024453004.1:c.756G>C	XP_024308772.1:p.Glu252Asp
XM_024453005.1:c.738G>C	XP_024308773.1:p.Glu246Asp
XM_024453006.1:c.675G>C	XP_024308774.1:p.Glu225Asp
XR_923313.2:n.4463C>G
NM_000312.4:c.573G>C MANE Select	NP_000303.1:p.Glu191Asp
NM_001375602.1:c.756G>C	NP_001362531.1:p.Glu252Asp
NM_001375603.1:c.738G>C	NP_001362532.1:p.Glu246Asp
NM_001375604.1:c.636G>C	NP_001362533.1:p.Glu212Asp
NM_001375605.1:c.675G>C	NP_001362534.1:p.Glu225Asp
NM_001375606.1:c.741G>C	NP_001362535.1:p.Glu247Asp
NM_001375607.1:c.759G>C	NP_001362536.1:p.Glu253Asp
NM_001375608.1:c.516G>C	NP_001362537.1:p.Glu172Asp
NM_001375609.1:c.549G>C	NP_001362538.1:p.Glu183Asp
NM_001375610.1:c.567G>C	NP_001362539.1:p.Glu189Asp
NM_001375611.1:c.573G>C	NP_001362540.1:p.Glu191Asp
NM_001375613.1:c.573G>C	NP_001362542.1:p.Glu191Asp