Canonical Allele Identifier: CA348405735

Gene: PROC

Linked Data

• MyVariant Identifiers: chr2:g.128186223A>C (hg19) ; chr2:g.127428647A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127428647A>C , CM000664.2:g.127428647A>C	GRCh38
NC_000002.11:g.128186223A>C , CM000664.1:g.128186223A>C	GRCh37
NC_000002.10:g.127902693A>C	NCBI36
NG_016323.1:g.15228A>C , LRG_599:g.15228A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234071.8:c.1087A>C MANE Select	ENSP00000234071.4:p.Ile363Leu
ENST00000234071.7:c.1087A>C	ENSP00000234071.3:p.Ile363Leu
ENST00000402125.2:c.411A>C
ENST00000409048.1:c.1189A>C	ENSP00000386679.1:p.Ile397Leu
NM_000312.3:c.1087A>C , LRG_599t1:c.1087A>C	NP_000303.1:p.Ile363Leu
XM_005263715.3:c.1270A>C	XP_005263772.1:p.Ile424Leu
XM_005263716.3:c.1252A>C	XP_005263773.1:p.Ile418Leu
XM_005263717.3:c.1150A>C	XP_005263774.1:p.Ile384Leu
XR_923313.1:n.1332-383T>G
XM_005263717.4:c.1150A>C	XP_005263774.1:p.Ile384Leu
XM_017004505.1:c.1330A>C	XP_016859994.1:p.Ile444Leu
XM_024453002.1:c.1432A>C	XP_024308770.1:p.Ile478Leu
XM_024453003.1:c.1372A>C	XP_024308771.1:p.Ile458Leu
XM_024453004.1:c.1270A>C	XP_024308772.1:p.Ile424Leu
XM_024453005.1:c.1252A>C	XP_024308773.1:p.Ile418Leu
XM_024453006.1:c.1189A>C	XP_024308774.1:p.Ile397Leu
XR_001739705.1:n.3607-383T>G
XR_923313.2:n.4043-383T>G
NM_000312.4:c.1087A>C MANE Select	NP_000303.1:p.Ile363Leu
NM_001375602.1:c.1270A>C	NP_001362531.1:p.Ile424Leu
NM_001375603.1:c.1252A>C	NP_001362532.1:p.Ile418Leu
NM_001375604.1:c.1150A>C	NP_001362533.1:p.Ile384Leu
NM_001375605.1:c.1189A>C	NP_001362534.1:p.Ile397Leu
NM_001375606.1:c.1255A>C	NP_001362535.1:p.Ile419Leu
NM_001375607.1:c.1273A>C	NP_001362536.1:p.Ile425Leu
NM_001375608.1:c.1030A>C	NP_001362537.1:p.Ile344Leu
NM_001375609.1:c.1063A>C	NP_001362538.1:p.Ile355Leu
NM_001375610.1:c.1081A>C	NP_001362539.1:p.Ile361Leu
NM_001375611.1:c.1087A>C	NP_001362540.1:p.Ile363Leu
NM_001375613.1:c.1087A>C	NP_001362542.1:p.Ile363Leu