Canonical Allele Identifier: CA348401005

Gene: PROC

Linked Data

• MyVariant Identifiers: chr2:g.128183674T>G (hg19) ; chr2:g.127426098T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127426098T>G , CM000664.2:g.127426098T>G	GRCh38
NC_000002.11:g.128183674T>G , CM000664.1:g.128183674T>G	GRCh37
NC_000002.10:g.127900144T>G	NCBI36
NG_016323.1:g.12679T>G , LRG_599:g.12679T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234071.8:c.549T>G MANE Select	ENSP00000234071.4:p.Cys183Trp
ENST00000234071.7:c.549T>G	ENSP00000234071.3:p.Cys183Trp
ENST00000402125.2:c.121-2259T>G
ENST00000409048.1:c.651T>G	ENSP00000386679.1:p.Cys217Trp
ENST00000442644.5:c.492T>G	ENSP00000411241.1:p.Cys164Trp
ENST00000464089.1:n.135T>G
NM_000312.3:c.549T>G , LRG_599t1:c.549T>G	NP_000303.1:p.Cys183Trp
XM_005263715.3:c.732T>G	XP_005263772.1:p.Cys244Trp
XM_005263716.3:c.714T>G	XP_005263773.1:p.Cys238Trp
XM_005263717.3:c.612T>G	XP_005263774.1:p.Cys204Trp
XM_005263717.4:c.612T>G	XP_005263774.1:p.Cys204Trp
XM_017004505.1:c.792T>G	XP_016859994.1:p.Cys264Trp
XM_024453002.1:c.894T>G	XP_024308770.1:p.Cys298Trp
XM_024453003.1:c.834T>G	XP_024308771.1:p.Cys278Trp
XM_024453004.1:c.732T>G	XP_024308772.1:p.Cys244Trp
XM_024453005.1:c.714T>G	XP_024308773.1:p.Cys238Trp
XM_024453006.1:c.651T>G	XP_024308774.1:p.Cys217Trp
XR_923313.2:n.4487A>C
NM_000312.4:c.549T>G MANE Select	NP_000303.1:p.Cys183Trp
NM_001375602.1:c.732T>G	NP_001362531.1:p.Cys244Trp
NM_001375603.1:c.714T>G	NP_001362532.1:p.Cys238Trp
NM_001375604.1:c.612T>G	NP_001362533.1:p.Cys204Trp
NM_001375605.1:c.651T>G	NP_001362534.1:p.Cys217Trp
NM_001375606.1:c.717T>G	NP_001362535.1:p.Cys239Trp
NM_001375607.1:c.735T>G	NP_001362536.1:p.Cys245Trp
NM_001375608.1:c.492T>G	NP_001362537.1:p.Cys164Trp
NM_001375609.1:c.525T>G	NP_001362538.1:p.Cys175Trp
NM_001375610.1:c.543T>G	NP_001362539.1:p.Cys181Trp
NM_001375611.1:c.549T>G	NP_001362540.1:p.Cys183Trp
NM_001375613.1:c.549T>G	NP_001362542.1:p.Cys183Trp