Canonical Allele Identifier: CA348402202

Gene: PROC

Linked Data

• MyVariant Identifiers: chr2:g.128184729A>C (hg19) ; chr2:g.127427153A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127427153A>C , CM000664.2:g.127427153A>C	GRCh38
NC_000002.11:g.128184729A>C , CM000664.1:g.128184729A>C	GRCh37
NC_000002.10:g.127901199A>C	NCBI36
NG_016323.1:g.13734A>C , LRG_599:g.13734A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000234071.8:c.727A>C MANE Select	ENSP00000234071.4:p.Ile243Leu
ENST00000234071.7:c.727A>C	ENSP00000234071.3:p.Ile243Leu
ENST00000402125.2:c.121-1204A>C
ENST00000409048.1:c.829A>C	ENSP00000386679.1:p.Ile277Leu
NM_000312.3:c.727A>C , LRG_599t1:c.727A>C	NP_000303.1:p.Ile243Leu
XM_005263715.3:c.910A>C	XP_005263772.1:p.Ile304Leu
XM_005263716.3:c.892A>C	XP_005263773.1:p.Ile298Leu
XM_005263717.3:c.790A>C	XP_005263774.1:p.Ile264Leu
XR_923313.1:n.1486-765T>G
XM_005263717.4:c.790A>C	XP_005263774.1:p.Ile264Leu
XM_017004505.1:c.970A>C	XP_016859994.1:p.Ile324Leu
XM_024453002.1:c.1072A>C	XP_024308770.1:p.Ile358Leu
XM_024453003.1:c.1012A>C	XP_024308771.1:p.Ile338Leu
XM_024453004.1:c.910A>C	XP_024308772.1:p.Ile304Leu
XM_024453005.1:c.892A>C	XP_024308773.1:p.Ile298Leu
XM_024453006.1:c.829A>C	XP_024308774.1:p.Ile277Leu
XR_923313.2:n.4197-765T>G
NM_000312.4:c.727A>C MANE Select	NP_000303.1:p.Ile243Leu
NM_001375602.1:c.910A>C	NP_001362531.1:p.Ile304Leu
NM_001375603.1:c.892A>C	NP_001362532.1:p.Ile298Leu
NM_001375604.1:c.790A>C	NP_001362533.1:p.Ile264Leu
NM_001375605.1:c.829A>C	NP_001362534.1:p.Ile277Leu
NM_001375606.1:c.895A>C	NP_001362535.1:p.Ile299Leu
NM_001375607.1:c.913A>C	NP_001362536.1:p.Ile305Leu
NM_001375608.1:c.670A>C	NP_001362537.1:p.Ile224Leu
NM_001375609.1:c.703A>C	NP_001362538.1:p.Ile235Leu
NM_001375610.1:c.721A>C	NP_001362539.1:p.Ile241Leu
NM_001375611.1:c.727A>C	NP_001362540.1:p.Ile243Leu
NM_001375613.1:c.727A>C	NP_001362542.1:p.Ile243Leu