Canonical Allele Identifier: CA348406669

Gene: PROC

Linked Data

• MyVariant Identifiers: chr2:g.128186461T>A (hg19) ; chr2:g.127428885T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127428885T>A , CM000664.2:g.127428885T>A	GRCh38
NC_000002.11:g.128186461T>A , CM000664.1:g.128186461T>A	GRCh37
NC_000002.10:g.127902931T>A	NCBI36
NG_016323.1:g.15466T>A , LRG_599:g.15466T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234071.8:c.1325T>A MANE Select	ENSP00000234071.4:p.Leu442His
ENST00000234071.7:c.1325T>A	ENSP00000234071.3:p.Leu442His
ENST00000402125.2:c.649T>A
ENST00000409048.1:c.1427T>A	ENSP00000386679.1:p.Leu476His
NM_000312.3:c.1325T>A , LRG_599t1:c.1325T>A	NP_000303.1:p.Leu442His
XM_005263715.3:c.1508T>A	XP_005263772.1:p.Leu503His
XM_005263716.3:c.1490T>A	XP_005263773.1:p.Leu497His
XM_005263717.3:c.1388T>A	XP_005263774.1:p.Leu463His
XR_923313.1:n.1332-621A>T
XM_005263717.4:c.1388T>A	XP_005263774.1:p.Leu463His
XM_017004505.1:c.1568T>A	XP_016859994.1:p.Leu523His
XM_024453002.1:c.1670T>A	XP_024308770.1:p.Leu557His
XM_024453003.1:c.1610T>A	XP_024308771.1:p.Leu537His
XM_024453004.1:c.1508T>A	XP_024308772.1:p.Leu503His
XM_024453005.1:c.1490T>A	XP_024308773.1:p.Leu497His
XM_024453006.1:c.1427T>A	XP_024308774.1:p.Leu476His
XR_001739705.1:n.3607-621A>T
XR_923313.2:n.4043-621A>T
NM_000312.4:c.1325T>A MANE Select	NP_000303.1:p.Leu442His
NM_001375602.1:c.1508T>A	NP_001362531.1:p.Leu503His
NM_001375603.1:c.1490T>A	NP_001362532.1:p.Leu497His
NM_001375604.1:c.1388T>A	NP_001362533.1:p.Leu463His
NM_001375605.1:c.1427T>A	NP_001362534.1:p.Leu476His
NM_001375606.1:c.1493T>A	NP_001362535.1:p.Leu498His
NM_001375607.1:c.1511T>A	NP_001362536.1:p.Leu504His
NM_001375608.1:c.1268T>A	NP_001362537.1:p.Leu423His
NM_001375609.1:c.1301T>A	NP_001362538.1:p.Leu434His
NM_001375610.1:c.1319T>A	NP_001362539.1:p.Leu440His
NM_001375611.1:c.1325T>A	NP_001362540.1:p.Leu442His
NM_001375613.1:c.1325T>A	NP_001362542.1:p.Leu442His