Canonical Allele Identifier: CA348406469

Gene: PROC

Linked Data

• MyVariant Identifiers: chr2:g.128186392T>C (hg19) ; chr2:g.127428816T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127428816T>C , CM000664.2:g.127428816T>C	GRCh38
NC_000002.11:g.128186392T>C , CM000664.1:g.128186392T>C	GRCh37
NC_000002.10:g.127902862T>C	NCBI36
NG_016323.1:g.15397T>C , LRG_599:g.15397T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234071.8:c.1256T>C MANE Select	ENSP00000234071.4:p.Leu419Pro
ENST00000234071.7:c.1256T>C	ENSP00000234071.3:p.Leu419Pro
ENST00000402125.2:c.580T>C
ENST00000409048.1:c.1358T>C	ENSP00000386679.1:p.Leu453Pro
NM_000312.3:c.1256T>C , LRG_599t1:c.1256T>C	NP_000303.1:p.Leu419Pro
XM_005263715.3:c.1439T>C	XP_005263772.1:p.Leu480Pro
XM_005263716.3:c.1421T>C	XP_005263773.1:p.Leu474Pro
XM_005263717.3:c.1319T>C	XP_005263774.1:p.Leu440Pro
XR_923313.1:n.1332-552A>G
XM_005263717.4:c.1319T>C	XP_005263774.1:p.Leu440Pro
XM_017004505.1:c.1499T>C	XP_016859994.1:p.Leu500Pro
XM_024453002.1:c.1601T>C	XP_024308770.1:p.Leu534Pro
XM_024453003.1:c.1541T>C	XP_024308771.1:p.Leu514Pro
XM_024453004.1:c.1439T>C	XP_024308772.1:p.Leu480Pro
XM_024453005.1:c.1421T>C	XP_024308773.1:p.Leu474Pro
XM_024453006.1:c.1358T>C	XP_024308774.1:p.Leu453Pro
XR_001739705.1:n.3607-552A>G
XR_923313.2:n.4043-552A>G
NM_000312.4:c.1256T>C MANE Select	NP_000303.1:p.Leu419Pro
NM_001375602.1:c.1439T>C	NP_001362531.1:p.Leu480Pro
NM_001375603.1:c.1421T>C	NP_001362532.1:p.Leu474Pro
NM_001375604.1:c.1319T>C	NP_001362533.1:p.Leu440Pro
NM_001375605.1:c.1358T>C	NP_001362534.1:p.Leu453Pro
NM_001375606.1:c.1424T>C	NP_001362535.1:p.Leu475Pro
NM_001375607.1:c.1442T>C	NP_001362536.1:p.Leu481Pro
NM_001375608.1:c.1199T>C	NP_001362537.1:p.Leu400Pro
NM_001375609.1:c.1232T>C	NP_001362538.1:p.Leu411Pro
NM_001375610.1:c.1250T>C	NP_001362539.1:p.Leu417Pro
NM_001375611.1:c.1256T>C	NP_001362540.1:p.Leu419Pro
NM_001375613.1:c.1256T>C	NP_001362542.1:p.Leu419Pro