Canonical Allele Identifier: CA348401116

Gene: PROC

Linked Data

• MyVariant Identifiers: chr2:g.128183693A>T (hg19) ; chr2:g.127426117A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127426117A>T , CM000664.2:g.127426117A>T	GRCh38
NC_000002.11:g.128183693A>T , CM000664.1:g.128183693A>T	GRCh37
NC_000002.10:g.127900163A>T	NCBI36
NG_016323.1:g.12698A>T , LRG_599:g.12698A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000234071.8:c.568A>T MANE Select	ENSP00000234071.4:p.Met190Leu
ENST00000234071.7:c.568A>T	ENSP00000234071.3:p.Met190Leu
ENST00000402125.2:c.121-2240A>T
ENST00000409048.1:c.670A>T	ENSP00000386679.1:p.Met224Leu
ENST00000442644.5:c.511A>T	ENSP00000411241.1:p.Met171Leu
ENST00000464089.1:n.154A>T
NM_000312.3:c.568A>T , LRG_599t1:c.568A>T	NP_000303.1:p.Met190Leu
XM_005263715.3:c.751A>T	XP_005263772.1:p.Met251Leu
XM_005263716.3:c.733A>T	XP_005263773.1:p.Met245Leu
XM_005263717.3:c.631A>T	XP_005263774.1:p.Met211Leu
XM_005263717.4:c.631A>T	XP_005263774.1:p.Met211Leu
XM_017004505.1:c.811A>T	XP_016859994.1:p.Met271Leu
XM_024453002.1:c.913A>T	XP_024308770.1:p.Met305Leu
XM_024453003.1:c.853A>T	XP_024308771.1:p.Met285Leu
XM_024453004.1:c.751A>T	XP_024308772.1:p.Met251Leu
XM_024453005.1:c.733A>T	XP_024308773.1:p.Met245Leu
XM_024453006.1:c.670A>T	XP_024308774.1:p.Met224Leu
XR_923313.2:n.4468T>A
NM_000312.4:c.568A>T MANE Select	NP_000303.1:p.Met190Leu
NM_001375602.1:c.751A>T	NP_001362531.1:p.Met251Leu
NM_001375603.1:c.733A>T	NP_001362532.1:p.Met245Leu
NM_001375604.1:c.631A>T	NP_001362533.1:p.Met211Leu
NM_001375605.1:c.670A>T	NP_001362534.1:p.Met224Leu
NM_001375606.1:c.736A>T	NP_001362535.1:p.Met246Leu
NM_001375607.1:c.754A>T	NP_001362536.1:p.Met252Leu
NM_001375608.1:c.511A>T	NP_001362537.1:p.Met171Leu
NM_001375609.1:c.544A>T	NP_001362538.1:p.Met182Leu
NM_001375610.1:c.562A>T	NP_001362539.1:p.Met188Leu
NM_001375611.1:c.568A>T	NP_001362540.1:p.Met190Leu
NM_001375613.1:c.568A>T	NP_001362542.1:p.Met190Leu