Canonical Allele Identifier: CA348404789

Gene: PROC

Linked Data

• dbSNP Id: rs1573459813
• MyVariant Identifiers: chr2:g.128186047A>C (hg19) ; chr2:g.127428471A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127428471A>C , CM000664.2:g.127428471A>C	GRCh38
NC_000002.11:g.128186047A>C , CM000664.1:g.128186047A>C	GRCh37
NC_000002.10:g.127902517A>C	NCBI36
NG_016323.1:g.15052A>C , LRG_599:g.15052A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000234071.8:c.911A>C MANE Select	ENSP00000234071.4:p.His304Pro
ENST00000234071.7:c.911A>C	ENSP00000234071.3:p.His304Pro
ENST00000402125.2:c.235A>C
ENST00000409048.1:c.1013A>C	ENSP00000386679.1:p.His338Pro
NM_000312.3:c.911A>C , LRG_599t1:c.911A>C	NP_000303.1:p.His304Pro
XM_005263715.3:c.1094A>C	XP_005263772.1:p.His365Pro
XM_005263716.3:c.1076A>C	XP_005263773.1:p.His359Pro
XM_005263717.3:c.974A>C	XP_005263774.1:p.His325Pro
XR_923313.1:n.1332-207T>G
XM_005263717.4:c.974A>C	XP_005263774.1:p.His325Pro
XM_017004505.1:c.1154A>C	XP_016859994.1:p.His385Pro
XM_024453002.1:c.1256A>C	XP_024308770.1:p.His419Pro
XM_024453003.1:c.1196A>C	XP_024308771.1:p.His399Pro
XM_024453004.1:c.1094A>C	XP_024308772.1:p.His365Pro
XM_024453005.1:c.1076A>C	XP_024308773.1:p.His359Pro
XM_024453006.1:c.1013A>C	XP_024308774.1:p.His338Pro
XR_001739705.1:n.3607-207T>G
XR_923313.2:n.4043-207T>G
NM_000312.4:c.911A>C MANE Select	NP_000303.1:p.His304Pro
NM_001375602.1:c.1094A>C	NP_001362531.1:p.His365Pro
NM_001375603.1:c.1076A>C	NP_001362532.1:p.His359Pro
NM_001375604.1:c.974A>C	NP_001362533.1:p.His325Pro
NM_001375605.1:c.1013A>C	NP_001362534.1:p.His338Pro
NM_001375606.1:c.1079A>C	NP_001362535.1:p.His360Pro
NM_001375607.1:c.1097A>C	NP_001362536.1:p.His366Pro
NM_001375608.1:c.854A>C	NP_001362537.1:p.His285Pro
NM_001375609.1:c.887A>C	NP_001362538.1:p.His296Pro
NM_001375610.1:c.905A>C	NP_001362539.1:p.His302Pro
NM_001375611.1:c.911A>C	NP_001362540.1:p.His304Pro
NM_001375613.1:c.911A>C	NP_001362542.1:p.His304Pro