Canonical Allele Identifier: CA348401046

Gene: PROC

Linked Data

• ClinVar Variation Id: 3061365
• ClinVar RCV Id: RCV003983373
• MyVariant Identifiers: chr2:g.128183681C>T (hg19) ; chr2:g.127426105C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127426105C>T , CM000664.2:g.127426105C>T	GRCh38
NC_000002.11:g.128183681C>T , CM000664.1:g.128183681C>T	GRCh37
NC_000002.10:g.127900151C>T	NCBI36
NG_016323.1:g.12686C>T , LRG_599:g.12686C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234071.8:c.556C>T MANE Select	ENSP00000234071.4:p.Pro186Ser
ENST00000234071.7:c.556C>T	ENSP00000234071.3:p.Pro186Ser
ENST00000402125.2:c.121-2252C>T
ENST00000409048.1:c.658C>T	ENSP00000386679.1:p.Pro220Ser
ENST00000442644.5:c.499C>T	ENSP00000411241.1:p.Pro167Ser
ENST00000464089.1:n.142C>T
NM_000312.3:c.556C>T , LRG_599t1:c.556C>T	NP_000303.1:p.Pro186Ser
XM_005263715.3:c.739C>T	XP_005263772.1:p.Pro247Ser
XM_005263716.3:c.721C>T	XP_005263773.1:p.Pro241Ser
XM_005263717.3:c.619C>T	XP_005263774.1:p.Pro207Ser
XM_005263717.4:c.619C>T	XP_005263774.1:p.Pro207Ser
XM_017004505.1:c.799C>T	XP_016859994.1:p.Pro267Ser
XM_024453002.1:c.901C>T	XP_024308770.1:p.Pro301Ser
XM_024453003.1:c.841C>T	XP_024308771.1:p.Pro281Ser
XM_024453004.1:c.739C>T	XP_024308772.1:p.Pro247Ser
XM_024453005.1:c.721C>T	XP_024308773.1:p.Pro241Ser
XM_024453006.1:c.658C>T	XP_024308774.1:p.Pro220Ser
XR_923313.2:n.4480G>A
NM_000312.4:c.556C>T MANE Select	NP_000303.1:p.Pro186Ser
NM_001375602.1:c.739C>T	NP_001362531.1:p.Pro247Ser
NM_001375603.1:c.721C>T	NP_001362532.1:p.Pro241Ser
NM_001375604.1:c.619C>T	NP_001362533.1:p.Pro207Ser
NM_001375605.1:c.658C>T	NP_001362534.1:p.Pro220Ser
NM_001375606.1:c.724C>T	NP_001362535.1:p.Pro242Ser
NM_001375607.1:c.742C>T	NP_001362536.1:p.Pro248Ser
NM_001375608.1:c.499C>T	NP_001362537.1:p.Pro167Ser
NM_001375609.1:c.532C>T	NP_001362538.1:p.Pro178Ser
NM_001375610.1:c.550C>T	NP_001362539.1:p.Pro184Ser
NM_001375611.1:c.556C>T	NP_001362540.1:p.Pro186Ser
NM_001375613.1:c.556C>T	NP_001362542.1:p.Pro186Ser