Canonical Allele Identifier: CA348404832

Gene: PROC

Linked Data

• MyVariant Identifiers: chr2:g.128186053C>T (hg19) ; chr2:g.127428477C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127428477C>T , CM000664.2:g.127428477C>T	GRCh38
NC_000002.11:g.128186053C>T , CM000664.1:g.128186053C>T	GRCh37
NC_000002.10:g.127902523C>T	NCBI36
NG_016323.1:g.15058C>T , LRG_599:g.15058C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234071.8:c.917C>T MANE Select	ENSP00000234071.4:p.Ala306Val
ENST00000234071.7:c.917C>T	ENSP00000234071.3:p.Ala306Val
ENST00000402125.2:c.241C>T
ENST00000409048.1:c.1019C>T	ENSP00000386679.1:p.Ala340Val
NM_000312.3:c.917C>T , LRG_599t1:c.917C>T	NP_000303.1:p.Ala306Val
XM_005263715.3:c.1100C>T	XP_005263772.1:p.Ala367Val
XM_005263716.3:c.1082C>T	XP_005263773.1:p.Ala361Val
XM_005263717.3:c.980C>T	XP_005263774.1:p.Ala327Val
XR_923313.1:n.1332-213G>A
XM_005263717.4:c.980C>T	XP_005263774.1:p.Ala327Val
XM_017004505.1:c.1160C>T	XP_016859994.1:p.Ala387Val
XM_024453002.1:c.1262C>T	XP_024308770.1:p.Ala421Val
XM_024453003.1:c.1202C>T	XP_024308771.1:p.Ala401Val
XM_024453004.1:c.1100C>T	XP_024308772.1:p.Ala367Val
XM_024453005.1:c.1082C>T	XP_024308773.1:p.Ala361Val
XM_024453006.1:c.1019C>T	XP_024308774.1:p.Ala340Val
XR_001739705.1:n.3607-213G>A
XR_923313.2:n.4043-213G>A
NM_000312.4:c.917C>T MANE Select	NP_000303.1:p.Ala306Val
NM_001375602.1:c.1100C>T	NP_001362531.1:p.Ala367Val
NM_001375603.1:c.1082C>T	NP_001362532.1:p.Ala361Val
NM_001375604.1:c.980C>T	NP_001362533.1:p.Ala327Val
NM_001375605.1:c.1019C>T	NP_001362534.1:p.Ala340Val
NM_001375606.1:c.1085C>T	NP_001362535.1:p.Ala362Val
NM_001375607.1:c.1103C>T	NP_001362536.1:p.Ala368Val
NM_001375608.1:c.860C>T	NP_001362537.1:p.Ala287Val
NM_001375609.1:c.893C>T	NP_001362538.1:p.Ala298Val
NM_001375610.1:c.911C>T	NP_001362539.1:p.Ala304Val
NM_001375611.1:c.917C>T	NP_001362540.1:p.Ala306Val
NM_001375613.1:c.917C>T	NP_001362542.1:p.Ala306Val