Canonical Allele Identifier: CA348405639

Gene: PROC

Linked Data

• dbSNP Id: rs1191848415
• gnomAD v2: 2-128186184-A-T
• gnomAD v4: 2-127428608-A-T
• MyVariant Identifiers: chr2:g.128186184A>T (hg19) ; chr2:g.127428608A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127428608A>T , CM000664.2:g.127428608A>T	GRCh38
NC_000002.11:g.128186184A>T , CM000664.1:g.128186184A>T	GRCh37
NC_000002.10:g.127902654A>T	NCBI36
NG_016323.1:g.15189A>T , LRG_599:g.15189A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000234071.8:c.1048A>T MANE Select	ENSP00000234071.4:p.Lys350Ter
ENST00000234071.7:c.1048A>T	ENSP00000234071.3:p.Lys350Ter
ENST00000402125.2:c.372A>T
ENST00000409048.1:c.1150A>T	ENSP00000386679.1:p.Lys384Ter
NM_000312.3:c.1048A>T , LRG_599t1:c.1048A>T	NP_000303.1:p.Lys350Ter
XM_005263715.3:c.1231A>T	XP_005263772.1:p.Lys411Ter
XM_005263716.3:c.1213A>T	XP_005263773.1:p.Lys405Ter
XM_005263717.3:c.1111A>T	XP_005263774.1:p.Lys371Ter
XR_923313.1:n.1332-344T>A
XM_005263717.4:c.1111A>T	XP_005263774.1:p.Lys371Ter
XM_017004505.1:c.1291A>T	XP_016859994.1:p.Lys431Ter
XM_024453002.1:c.1393A>T	XP_024308770.1:p.Lys465Ter
XM_024453003.1:c.1333A>T	XP_024308771.1:p.Lys445Ter
XM_024453004.1:c.1231A>T	XP_024308772.1:p.Lys411Ter
XM_024453005.1:c.1213A>T	XP_024308773.1:p.Lys405Ter
XM_024453006.1:c.1150A>T	XP_024308774.1:p.Lys384Ter
XR_001739705.1:n.3607-344T>A
XR_923313.2:n.4043-344T>A
NM_000312.4:c.1048A>T MANE Select	NP_000303.1:p.Lys350Ter
NM_001375602.1:c.1231A>T	NP_001362531.1:p.Lys411Ter
NM_001375603.1:c.1213A>T	NP_001362532.1:p.Lys405Ter
NM_001375604.1:c.1111A>T	NP_001362533.1:p.Lys371Ter
NM_001375605.1:c.1150A>T	NP_001362534.1:p.Lys384Ter
NM_001375606.1:c.1216A>T	NP_001362535.1:p.Lys406Ter
NM_001375607.1:c.1234A>T	NP_001362536.1:p.Lys412Ter
NM_001375608.1:c.991A>T	NP_001362537.1:p.Lys331Ter
NM_001375609.1:c.1024A>T	NP_001362538.1:p.Lys342Ter
NM_001375610.1:c.1042A>T	NP_001362539.1:p.Lys348Ter
NM_001375611.1:c.1048A>T	NP_001362540.1:p.Lys350Ter
NM_001375613.1:c.1048A>T	NP_001362542.1:p.Lys350Ter