Canonical Allele Identifier: CA348406104

Gene: PROC

Linked Data

• MyVariant Identifiers: chr2:g.128186304A>C (hg19) ; chr2:g.127428728A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127428728A>C , CM000664.2:g.127428728A>C	GRCh38
NC_000002.11:g.128186304A>C , CM000664.1:g.128186304A>C	GRCh37
NC_000002.10:g.127902774A>C	NCBI36
NG_016323.1:g.15309A>C , LRG_599:g.15309A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000234071.8:c.1168A>C MANE Select	ENSP00000234071.4:p.Ile390Leu
ENST00000234071.7:c.1168A>C	ENSP00000234071.3:p.Ile390Leu
ENST00000402125.2:c.492A>C
ENST00000409048.1:c.1270A>C	ENSP00000386679.1:p.Ile424Leu
NM_000312.3:c.1168A>C , LRG_599t1:c.1168A>C	NP_000303.1:p.Ile390Leu
XM_005263715.3:c.1351A>C	XP_005263772.1:p.Ile451Leu
XM_005263716.3:c.1333A>C	XP_005263773.1:p.Ile445Leu
XM_005263717.3:c.1231A>C	XP_005263774.1:p.Ile411Leu
XR_923313.1:n.1332-464T>G
XM_005263717.4:c.1231A>C	XP_005263774.1:p.Ile411Leu
XM_017004505.1:c.1411A>C	XP_016859994.1:p.Ile471Leu
XM_024453002.1:c.1513A>C	XP_024308770.1:p.Ile505Leu
XM_024453003.1:c.1453A>C	XP_024308771.1:p.Ile485Leu
XM_024453004.1:c.1351A>C	XP_024308772.1:p.Ile451Leu
XM_024453005.1:c.1333A>C	XP_024308773.1:p.Ile445Leu
XM_024453006.1:c.1270A>C	XP_024308774.1:p.Ile424Leu
XR_001739705.1:n.3607-464T>G
XR_923313.2:n.4043-464T>G
NM_000312.4:c.1168A>C MANE Select	NP_000303.1:p.Ile390Leu
NM_001375602.1:c.1351A>C	NP_001362531.1:p.Ile451Leu
NM_001375603.1:c.1333A>C	NP_001362532.1:p.Ile445Leu
NM_001375604.1:c.1231A>C	NP_001362533.1:p.Ile411Leu
NM_001375605.1:c.1270A>C	NP_001362534.1:p.Ile424Leu
NM_001375606.1:c.1336A>C	NP_001362535.1:p.Ile446Leu
NM_001375607.1:c.1354A>C	NP_001362536.1:p.Ile452Leu
NM_001375608.1:c.1111A>C	NP_001362537.1:p.Ile371Leu
NM_001375609.1:c.1144A>C	NP_001362538.1:p.Ile382Leu
NM_001375610.1:c.1162A>C	NP_001362539.1:p.Ile388Leu
NM_001375611.1:c.1168A>C	NP_001362540.1:p.Ile390Leu
NM_001375613.1:c.1168A>C	NP_001362542.1:p.Ile390Leu