Canonical Allele Identifier: CA348406447

Gene: PROC

Linked Data

• MyVariant Identifiers: chr2:g.128186386T>G (hg19) ; chr2:g.127428810T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127428810T>G , CM000664.2:g.127428810T>G	GRCh38
NC_000002.11:g.128186386T>G , CM000664.1:g.128186386T>G	GRCh37
NC_000002.10:g.127902856T>G	NCBI36
NG_016323.1:g.15391T>G , LRG_599:g.15391T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234071.8:c.1250T>G MANE Select	ENSP00000234071.4:p.Val417Gly
ENST00000234071.7:c.1250T>G	ENSP00000234071.3:p.Val417Gly
ENST00000402125.2:c.574T>G
ENST00000409048.1:c.1352T>G	ENSP00000386679.1:p.Val451Gly
NM_000312.3:c.1250T>G , LRG_599t1:c.1250T>G	NP_000303.1:p.Val417Gly
XM_005263715.3:c.1433T>G	XP_005263772.1:p.Val478Gly
XM_005263716.3:c.1415T>G	XP_005263773.1:p.Val472Gly
XM_005263717.3:c.1313T>G	XP_005263774.1:p.Val438Gly
XR_923313.1:n.1332-546A>C
XM_005263717.4:c.1313T>G	XP_005263774.1:p.Val438Gly
XM_017004505.1:c.1493T>G	XP_016859994.1:p.Val498Gly
XM_024453002.1:c.1595T>G	XP_024308770.1:p.Val532Gly
XM_024453003.1:c.1535T>G	XP_024308771.1:p.Val512Gly
XM_024453004.1:c.1433T>G	XP_024308772.1:p.Val478Gly
XM_024453005.1:c.1415T>G	XP_024308773.1:p.Val472Gly
XM_024453006.1:c.1352T>G	XP_024308774.1:p.Val451Gly
XR_001739705.1:n.3607-546A>C
XR_923313.2:n.4043-546A>C
NM_000312.4:c.1250T>G MANE Select	NP_000303.1:p.Val417Gly
NM_001375602.1:c.1433T>G	NP_001362531.1:p.Val478Gly
NM_001375603.1:c.1415T>G	NP_001362532.1:p.Val472Gly
NM_001375604.1:c.1313T>G	NP_001362533.1:p.Val438Gly
NM_001375605.1:c.1352T>G	NP_001362534.1:p.Val451Gly
NM_001375606.1:c.1418T>G	NP_001362535.1:p.Val473Gly
NM_001375607.1:c.1436T>G	NP_001362536.1:p.Val479Gly
NM_001375608.1:c.1193T>G	NP_001362537.1:p.Val398Gly
NM_001375609.1:c.1226T>G	NP_001362538.1:p.Val409Gly
NM_001375610.1:c.1244T>G	NP_001362539.1:p.Val415Gly
NM_001375611.1:c.1250T>G	NP_001362540.1:p.Val417Gly
NM_001375613.1:c.1250T>G	NP_001362542.1:p.Val417Gly