Canonical Allele Identifier: CA428872714

Gene: PROC

Linked Data

• MyVariant Identifiers: chr2:g.128186384G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127428808G>A , CM000664.2:g.127428808G>A	GRCh38
NC_000002.11:g.128186384G>A , CM000664.1:g.128186384G>A	GRCh37
NC_000002.10:g.127902854G>A	NCBI36
NG_016323.1:g.15389G>A , LRG_599:g.15389G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234071.8:c.1248G>A MANE Select	ENSP00000234071.4:p.Leu416=
ENST00000234071.7:c.1248G>A	ENSP00000234071.3:p.Leu416=
ENST00000402125.2:c.572G>A
ENST00000409048.1:c.1350G>A	ENSP00000386679.1:p.Leu450=
NM_000312.3:c.1248G>A , LRG_599t1:c.1248G>A	NP_000303.1:p.Leu416=
XM_005263715.3:c.1431G>A	XP_005263772.1:p.Leu477=
XM_005263716.3:c.1413G>A	XP_005263773.1:p.Leu471=
XM_005263717.3:c.1311G>A	XP_005263774.1:p.Leu437=
XR_923313.1:n.1332-544C>T
XM_005263717.4:c.1311G>A	XP_005263774.1:p.Leu437=
XM_017004505.1:c.1491G>A	XP_016859994.1:p.Leu497=
XM_024453002.1:c.1593G>A	XP_024308770.1:p.Leu531=
XM_024453003.1:c.1533G>A	XP_024308771.1:p.Leu511=
XM_024453004.1:c.1431G>A	XP_024308772.1:p.Leu477=
XM_024453005.1:c.1413G>A	XP_024308773.1:p.Leu471=
XM_024453006.1:c.1350G>A	XP_024308774.1:p.Leu450=
XR_001739705.1:n.3607-544C>T
XR_923313.2:n.4043-544C>T
NM_000312.4:c.1248G>A MANE Select	NP_000303.1:p.Leu416=
NM_001375602.1:c.1431G>A	NP_001362531.1:p.Leu477=
NM_001375603.1:c.1413G>A	NP_001362532.1:p.Leu471=
NM_001375604.1:c.1311G>A	NP_001362533.1:p.Leu437=
NM_001375605.1:c.1350G>A	NP_001362534.1:p.Leu450=
NM_001375606.1:c.1416G>A	NP_001362535.1:p.Leu472=
NM_001375607.1:c.1434G>A	NP_001362536.1:p.Leu478=
NM_001375608.1:c.1191G>A	NP_001362537.1:p.Leu397=
NM_001375609.1:c.1224G>A	NP_001362538.1:p.Leu408=
NM_001375610.1:c.1242G>A	NP_001362539.1:p.Leu414=
NM_001375611.1:c.1248G>A	NP_001362540.1:p.Leu416=
NM_001375613.1:c.1248G>A	NP_001362542.1:p.Leu416=