Canonical Allele Identifier: CA428873468

Gene: PROC

Linked Data

• dbSNP Id: rs1484480565
• gnomAD v2: 2-128186309-C-T
• gnomAD v4: 2-127428733-C-T
• COSMIC: COSM5559588 ; COSM5559589
• MyVariant Identifiers: chr2:g.128186309C>T (hg19) ; chr2:g.127428733C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127428733C>T , CM000664.2:g.127428733C>T	GRCh38
NC_000002.11:g.128186309C>T , CM000664.1:g.128186309C>T	GRCh37
NC_000002.10:g.127902779C>T	NCBI36
NG_016323.1:g.15314C>T , LRG_599:g.15314C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000234071.8:c.1173C>T MANE Select	ENSP00000234071.4:p.Leu391=
ENST00000234071.7:c.1173C>T	ENSP00000234071.3:p.Leu391=
ENST00000402125.2:c.497C>T
ENST00000409048.1:c.1275C>T	ENSP00000386679.1:p.Leu425=
NM_000312.3:c.1173C>T , LRG_599t1:c.1173C>T	NP_000303.1:p.Leu391=
XM_005263715.3:c.1356C>T	XP_005263772.1:p.Leu452=
XM_005263716.3:c.1338C>T	XP_005263773.1:p.Leu446=
XM_005263717.3:c.1236C>T	XP_005263774.1:p.Leu412=
XR_923313.1:n.1332-469G>A
XM_005263717.4:c.1236C>T	XP_005263774.1:p.Leu412=
XM_017004505.1:c.1416C>T	XP_016859994.1:p.Leu472=
XM_024453002.1:c.1518C>T	XP_024308770.1:p.Leu506=
XM_024453003.1:c.1458C>T	XP_024308771.1:p.Leu486=
XM_024453004.1:c.1356C>T	XP_024308772.1:p.Leu452=
XM_024453005.1:c.1338C>T	XP_024308773.1:p.Leu446=
XM_024453006.1:c.1275C>T	XP_024308774.1:p.Leu425=
XR_001739705.1:n.3607-469G>A
XR_923313.2:n.4043-469G>A
NM_000312.4:c.1173C>T MANE Select	NP_000303.1:p.Leu391=
NM_001375602.1:c.1356C>T	NP_001362531.1:p.Leu452=
NM_001375603.1:c.1338C>T	NP_001362532.1:p.Leu446=
NM_001375604.1:c.1236C>T	NP_001362533.1:p.Leu412=
NM_001375605.1:c.1275C>T	NP_001362534.1:p.Leu425=
NM_001375606.1:c.1341C>T	NP_001362535.1:p.Leu447=
NM_001375607.1:c.1359C>T	NP_001362536.1:p.Leu453=
NM_001375608.1:c.1116C>T	NP_001362537.1:p.Leu372=
NM_001375609.1:c.1149C>T	NP_001362538.1:p.Leu383=
NM_001375610.1:c.1167C>T	NP_001362539.1:p.Leu389=
NM_001375611.1:c.1173C>T	NP_001362540.1:p.Leu391=
NM_001375613.1:c.1173C>T	NP_001362542.1:p.Leu391=