Canonical Allele Identifier: CA428618296

Gene: PROC

Linked Data

• dbSNP Id: rs1163054591
• COSMIC: COSM3566094
• MyVariant Identifiers: chr2:g.128183746A>G (hg19) ; chr2:g.127426170A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127426170A>G , CM000664.2:g.127426170A>G	GRCh38
NC_000002.11:g.128183746A>G , CM000664.1:g.128183746A>G	GRCh37
NC_000002.10:g.127900216A>G	NCBI36
NG_016323.1:g.12751A>G , LRG_599:g.12751A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234071.8:c.621A>G MANE Select	ENSP00000234071.4:p.Gln207=
ENST00000234071.7:c.621A>G	ENSP00000234071.3:p.Gln207=
ENST00000402125.2:c.121-2187A>G
ENST00000409048.1:c.723A>G	ENSP00000386679.1:p.Gln241=
ENST00000464089.1:n.207A>G
NM_000312.3:c.621A>G , LRG_599t1:c.621A>G	NP_000303.1:p.Gln207=
XM_005263715.3:c.804A>G	XP_005263772.1:p.Gln268=
XM_005263716.3:c.786A>G	XP_005263773.1:p.Gln262=
XM_005263717.3:c.684A>G	XP_005263774.1:p.Gln228=
XM_005263717.4:c.684A>G	XP_005263774.1:p.Gln228=
XM_017004505.1:c.864A>G	XP_016859994.1:p.Gln288=
XM_024453002.1:c.966A>G	XP_024308770.1:p.Gln322=
XM_024453003.1:c.906A>G	XP_024308771.1:p.Gln302=
XM_024453004.1:c.804A>G	XP_024308772.1:p.Gln268=
XM_024453005.1:c.786A>G	XP_024308773.1:p.Gln262=
XM_024453006.1:c.723A>G	XP_024308774.1:p.Gln241=
XR_923313.2:n.4415T>C
NM_000312.4:c.621A>G MANE Select	NP_000303.1:p.Gln207=
NM_001375602.1:c.804A>G	NP_001362531.1:p.Gln268=
NM_001375603.1:c.786A>G	NP_001362532.1:p.Gln262=
NM_001375604.1:c.684A>G	NP_001362533.1:p.Gln228=
NM_001375605.1:c.723A>G	NP_001362534.1:p.Gln241=
NM_001375606.1:c.789A>G	NP_001362535.1:p.Gln263=
NM_001375607.1:c.807A>G	NP_001362536.1:p.Gln269=
NM_001375608.1:c.564A>G	NP_001362537.1:p.Gln188=
NM_001375609.1:c.597A>G	NP_001362538.1:p.Gln199=
NM_001375610.1:c.615A>G	NP_001362539.1:p.Gln205=
NM_001375611.1:c.621A>G	NP_001362540.1:p.Gln207=
NM_001375613.1:c.621A>G	NP_001362542.1:p.Gln207=