Canonical Allele Identifier: CA348401734

Gene: PROC

Linked Data

• MyVariant Identifiers: chr2:g.128183796C>T (hg19) ; chr2:g.127426220C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127426220C>T , CM000664.2:g.127426220C>T	GRCh38
NC_000002.11:g.128183796C>T , CM000664.1:g.128183796C>T	GRCh37
NC_000002.10:g.127900266C>T	NCBI36
NG_016323.1:g.12801C>T , LRG_599:g.12801C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234071.8:c.671C>T MANE Select	ENSP00000234071.4:p.Pro224Leu
ENST00000234071.7:c.671C>T	ENSP00000234071.3:p.Pro224Leu
ENST00000402125.2:c.121-2137C>T
ENST00000409048.1:c.773C>T	ENSP00000386679.1:p.Pro258Leu
ENST00000464089.1:n.257C>T
NM_000312.3:c.671C>T , LRG_599t1:c.671C>T	NP_000303.1:p.Pro224Leu
XM_005263715.3:c.854C>T	XP_005263772.1:p.Pro285Leu
XM_005263716.3:c.836C>T	XP_005263773.1:p.Pro279Leu
XM_005263717.3:c.734C>T	XP_005263774.1:p.Pro245Leu
XM_005263717.4:c.734C>T	XP_005263774.1:p.Pro245Leu
XM_017004505.1:c.914C>T	XP_016859994.1:p.Pro305Leu
XM_024453002.1:c.1016C>T	XP_024308770.1:p.Pro339Leu
XM_024453003.1:c.956C>T	XP_024308771.1:p.Pro319Leu
XM_024453004.1:c.854C>T	XP_024308772.1:p.Pro285Leu
XM_024453005.1:c.836C>T	XP_024308773.1:p.Pro279Leu
XM_024453006.1:c.773C>T	XP_024308774.1:p.Pro258Leu
XR_923313.2:n.4365G>A
NM_000312.4:c.671C>T MANE Select	NP_000303.1:p.Pro224Leu
NM_001375602.1:c.854C>T	NP_001362531.1:p.Pro285Leu
NM_001375603.1:c.836C>T	NP_001362532.1:p.Pro279Leu
NM_001375604.1:c.734C>T	NP_001362533.1:p.Pro245Leu
NM_001375605.1:c.773C>T	NP_001362534.1:p.Pro258Leu
NM_001375606.1:c.839C>T	NP_001362535.1:p.Pro280Leu
NM_001375607.1:c.857C>T	NP_001362536.1:p.Pro286Leu
NM_001375608.1:c.614C>T	NP_001362537.1:p.Pro205Leu
NM_001375609.1:c.647C>T	NP_001362538.1:p.Pro216Leu
NM_001375610.1:c.665C>T	NP_001362539.1:p.Pro222Leu
NM_001375611.1:c.671C>T	NP_001362540.1:p.Pro224Leu
NM_001375613.1:c.671C>T	NP_001362542.1:p.Pro224Leu