Canonical Allele Identifier: CA348405849

Gene: PROC

Linked Data

• MyVariant Identifiers: chr2:g.128186250G>C (hg19) ; chr2:g.127428674G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127428674G>C , CM000664.2:g.127428674G>C	GRCh38
NC_000002.11:g.128186250G>C , CM000664.1:g.128186250G>C	GRCh37
NC_000002.10:g.127902720G>C	NCBI36
NG_016323.1:g.15255G>C , LRG_599:g.15255G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234071.8:c.1114G>C MANE Select	ENSP00000234071.4:p.Glu372Gln
ENST00000234071.7:c.1114G>C	ENSP00000234071.3:p.Glu372Gln
ENST00000402125.2:c.438G>C
ENST00000409048.1:c.1216G>C	ENSP00000386679.1:p.Glu406Gln
NM_000312.3:c.1114G>C , LRG_599t1:c.1114G>C	NP_000303.1:p.Glu372Gln
XM_005263715.3:c.1297G>C	XP_005263772.1:p.Glu433Gln
XM_005263716.3:c.1279G>C	XP_005263773.1:p.Glu427Gln
XM_005263717.3:c.1177G>C	XP_005263774.1:p.Glu393Gln
XR_923313.1:n.1332-410C>G
XM_005263717.4:c.1177G>C	XP_005263774.1:p.Glu393Gln
XM_017004505.1:c.1357G>C	XP_016859994.1:p.Glu453Gln
XM_024453002.1:c.1459G>C	XP_024308770.1:p.Glu487Gln
XM_024453003.1:c.1399G>C	XP_024308771.1:p.Glu467Gln
XM_024453004.1:c.1297G>C	XP_024308772.1:p.Glu433Gln
XM_024453005.1:c.1279G>C	XP_024308773.1:p.Glu427Gln
XM_024453006.1:c.1216G>C	XP_024308774.1:p.Glu406Gln
XR_001739705.1:n.3607-410C>G
XR_923313.2:n.4043-410C>G
NM_000312.4:c.1114G>C MANE Select	NP_000303.1:p.Glu372Gln
NM_001375602.1:c.1297G>C	NP_001362531.1:p.Glu433Gln
NM_001375603.1:c.1279G>C	NP_001362532.1:p.Glu427Gln
NM_001375604.1:c.1177G>C	NP_001362533.1:p.Glu393Gln
NM_001375605.1:c.1216G>C	NP_001362534.1:p.Glu406Gln
NM_001375606.1:c.1282G>C	NP_001362535.1:p.Glu428Gln
NM_001375607.1:c.1300G>C	NP_001362536.1:p.Glu434Gln
NM_001375608.1:c.1057G>C	NP_001362537.1:p.Glu353Gln
NM_001375609.1:c.1090G>C	NP_001362538.1:p.Glu364Gln
NM_001375610.1:c.1108G>C	NP_001362539.1:p.Glu370Gln
NM_001375611.1:c.1114G>C	NP_001362540.1:p.Glu372Gln
NM_001375613.1:c.1114G>C	NP_001362542.1:p.Glu372Gln