Canonical Allele Identifier: CA348401042

Gene: PROC

Linked Data

• MyVariant Identifiers: chr2:g.128183681C>A (hg19) ; chr2:g.127426105C>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234071.8:c.556C>A MANE Select	ENSP00000234071.4:p.Pro186Thr
ENST00000234071.7:c.556C>A	ENSP00000234071.3:p.Pro186Thr
ENST00000402125.2:c.121-2252C>A
ENST00000409048.1:c.658C>A	ENSP00000386679.1:p.Pro220Thr
ENST00000442644.5:c.499C>A	ENSP00000411241.1:p.Pro167Thr
ENST00000464089.1:n.142C>A
NM_000312.3:c.556C>A , LRG_599t1:c.556C>A	NP_000303.1:p.Pro186Thr
XM_005263715.3:c.739C>A	XP_005263772.1:p.Pro247Thr
XM_005263716.3:c.721C>A	XP_005263773.1:p.Pro241Thr
XM_005263717.3:c.619C>A	XP_005263774.1:p.Pro207Thr
XM_005263717.4:c.619C>A	XP_005263774.1:p.Pro207Thr
XM_017004505.1:c.799C>A	XP_016859994.1:p.Pro267Thr
XM_024453002.1:c.901C>A	XP_024308770.1:p.Pro301Thr
XM_024453003.1:c.841C>A	XP_024308771.1:p.Pro281Thr
XM_024453004.1:c.739C>A	XP_024308772.1:p.Pro247Thr
XM_024453005.1:c.721C>A	XP_024308773.1:p.Pro241Thr
XM_024453006.1:c.658C>A	XP_024308774.1:p.Pro220Thr
XR_923313.2:n.4480G>T
NM_000312.4:c.556C>A MANE Select	NP_000303.1:p.Pro186Thr
NM_001375602.1:c.739C>A	NP_001362531.1:p.Pro247Thr
NM_001375603.1:c.721C>A	NP_001362532.1:p.Pro241Thr
NM_001375604.1:c.619C>A	NP_001362533.1:p.Pro207Thr
NM_001375605.1:c.658C>A	NP_001362534.1:p.Pro220Thr
NM_001375606.1:c.724C>A	NP_001362535.1:p.Pro242Thr
NM_001375607.1:c.742C>A	NP_001362536.1:p.Pro248Thr
NM_001375608.1:c.499C>A	NP_001362537.1:p.Pro167Thr
NM_001375609.1:c.532C>A	NP_001362538.1:p.Pro178Thr
NM_001375610.1:c.550C>A	NP_001362539.1:p.Pro184Thr
NM_001375611.1:c.556C>A	NP_001362540.1:p.Pro186Thr
NM_001375613.1:c.556C>A	NP_001362542.1:p.Pro186Thr