Canonical Allele Identifier: CA348401585

Gene: PROC

Linked Data

• dbSNP Id: rs1194474395
• MyVariant Identifiers: chr2:g.128183775T>G (hg19) ; chr2:g.127426199T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127426199T>G , CM000664.2:g.127426199T>G	GRCh38
NC_000002.11:g.128183775T>G , CM000664.1:g.128183775T>G	GRCh37
NC_000002.10:g.127900245T>G	NCBI36
NG_016323.1:g.12780T>G , LRG_599:g.12780T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234071.8:c.650T>G MANE Select	ENSP00000234071.4:p.Met217Arg
ENST00000234071.7:c.650T>G	ENSP00000234071.3:p.Met217Arg
ENST00000402125.2:c.121-2158T>G
ENST00000409048.1:c.752T>G	ENSP00000386679.1:p.Met251Arg
ENST00000464089.1:n.236T>G
NM_000312.3:c.650T>G , LRG_599t1:c.650T>G	NP_000303.1:p.Met217Arg
XM_005263715.3:c.833T>G	XP_005263772.1:p.Met278Arg
XM_005263716.3:c.815T>G	XP_005263773.1:p.Met272Arg
XM_005263717.3:c.713T>G	XP_005263774.1:p.Met238Arg
XM_005263717.4:c.713T>G	XP_005263774.1:p.Met238Arg
XM_017004505.1:c.893T>G	XP_016859994.1:p.Met298Arg
XM_024453002.1:c.995T>G	XP_024308770.1:p.Met332Arg
XM_024453003.1:c.935T>G	XP_024308771.1:p.Met312Arg
XM_024453004.1:c.833T>G	XP_024308772.1:p.Met278Arg
XM_024453005.1:c.815T>G	XP_024308773.1:p.Met272Arg
XM_024453006.1:c.752T>G	XP_024308774.1:p.Met251Arg
XR_923313.2:n.4386A>C
NM_000312.4:c.650T>G MANE Select	NP_000303.1:p.Met217Arg
NM_001375602.1:c.833T>G	NP_001362531.1:p.Met278Arg
NM_001375603.1:c.815T>G	NP_001362532.1:p.Met272Arg
NM_001375604.1:c.713T>G	NP_001362533.1:p.Met238Arg
NM_001375605.1:c.752T>G	NP_001362534.1:p.Met251Arg
NM_001375606.1:c.818T>G	NP_001362535.1:p.Met273Arg
NM_001375607.1:c.836T>G	NP_001362536.1:p.Met279Arg
NM_001375608.1:c.593T>G	NP_001362537.1:p.Met198Arg
NM_001375609.1:c.626T>G	NP_001362538.1:p.Met209Arg
NM_001375610.1:c.644T>G	NP_001362539.1:p.Met215Arg
NM_001375611.1:c.650T>G	NP_001362540.1:p.Met217Arg
NM_001375613.1:c.650T>G	NP_001362542.1:p.Met217Arg