Canonical Allele Identifier: CA348406651

Gene: PROC

Linked Data

• gnomAD v3: 2-127428876-G-T
• gnomAD v4: 2-127428876-G-T
• MyVariant Identifiers: chr2:g.128186452G>T (hg19) ; chr2:g.127428876G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127428876G>T , CM000664.2:g.127428876G>T	GRCh38
NC_000002.11:g.128186452G>T , CM000664.1:g.128186452G>T	GRCh37
NC_000002.10:g.127902922G>T	NCBI36
NG_016323.1:g.15457G>T , LRG_599:g.15457G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234071.8:c.1316G>T MANE Select	ENSP00000234071.4:p.Ser439Ile
ENST00000234071.7:c.1316G>T	ENSP00000234071.3:p.Ser439Ile
ENST00000402125.2:c.640G>T
ENST00000409048.1:c.1418G>T	ENSP00000386679.1:p.Ser473Ile
NM_000312.3:c.1316G>T , LRG_599t1:c.1316G>T	NP_000303.1:p.Ser439Ile
XM_005263715.3:c.1499G>T	XP_005263772.1:p.Ser500Ile
XM_005263716.3:c.1481G>T	XP_005263773.1:p.Ser494Ile
XM_005263717.3:c.1379G>T	XP_005263774.1:p.Ser460Ile
XR_923313.1:n.1332-612C>A
XM_005263717.4:c.1379G>T	XP_005263774.1:p.Ser460Ile
XM_017004505.1:c.1559G>T	XP_016859994.1:p.Ser520Ile
XM_024453002.1:c.1661G>T	XP_024308770.1:p.Ser554Ile
XM_024453003.1:c.1601G>T	XP_024308771.1:p.Ser534Ile
XM_024453004.1:c.1499G>T	XP_024308772.1:p.Ser500Ile
XM_024453005.1:c.1481G>T	XP_024308773.1:p.Ser494Ile
XM_024453006.1:c.1418G>T	XP_024308774.1:p.Ser473Ile
XR_001739705.1:n.3607-612C>A
XR_923313.2:n.4043-612C>A
NM_000312.4:c.1316G>T MANE Select	NP_000303.1:p.Ser439Ile
NM_001375602.1:c.1499G>T	NP_001362531.1:p.Ser500Ile
NM_001375603.1:c.1481G>T	NP_001362532.1:p.Ser494Ile
NM_001375604.1:c.1379G>T	NP_001362533.1:p.Ser460Ile
NM_001375605.1:c.1418G>T	NP_001362534.1:p.Ser473Ile
NM_001375606.1:c.1484G>T	NP_001362535.1:p.Ser495Ile
NM_001375607.1:c.1502G>T	NP_001362536.1:p.Ser501Ile
NM_001375608.1:c.1259G>T	NP_001362537.1:p.Ser420Ile
NM_001375609.1:c.1292G>T	NP_001362538.1:p.Ser431Ile
NM_001375610.1:c.1310G>T	NP_001362539.1:p.Ser437Ile
NM_001375611.1:c.1316G>T	NP_001362540.1:p.Ser439Ile
NM_001375613.1:c.1316G>T	NP_001362542.1:p.Ser439Ile