Canonical Allele Identifier: CA348401320

Gene: PROC

Linked Data

• MyVariant Identifiers: chr2:g.128183723G>T (hg19) ; chr2:g.127426147G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127426147G>T , CM000664.2:g.127426147G>T	GRCh38
NC_000002.11:g.128183723G>T , CM000664.1:g.128183723G>T	GRCh37
NC_000002.10:g.127900193G>T	NCBI36
NG_016323.1:g.12728G>T , LRG_599:g.12728G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234071.8:c.598G>T MANE Select	ENSP00000234071.4:p.Asp200Tyr
ENST00000234071.7:c.598G>T	ENSP00000234071.3:p.Asp200Tyr
ENST00000402125.2:c.121-2210G>T
ENST00000409048.1:c.700G>T	ENSP00000386679.1:p.Asp234Tyr
ENST00000464089.1:n.184G>T
NM_000312.3:c.598G>T , LRG_599t1:c.598G>T	NP_000303.1:p.Asp200Tyr
XM_005263715.3:c.781G>T	XP_005263772.1:p.Asp261Tyr
XM_005263716.3:c.763G>T	XP_005263773.1:p.Asp255Tyr
XM_005263717.3:c.661G>T	XP_005263774.1:p.Asp221Tyr
XM_005263717.4:c.661G>T	XP_005263774.1:p.Asp221Tyr
XM_017004505.1:c.841G>T	XP_016859994.1:p.Asp281Tyr
XM_024453002.1:c.943G>T	XP_024308770.1:p.Asp315Tyr
XM_024453003.1:c.883G>T	XP_024308771.1:p.Asp295Tyr
XM_024453004.1:c.781G>T	XP_024308772.1:p.Asp261Tyr
XM_024453005.1:c.763G>T	XP_024308773.1:p.Asp255Tyr
XM_024453006.1:c.700G>T	XP_024308774.1:p.Asp234Tyr
XR_923313.2:n.4438C>A
NM_000312.4:c.598G>T MANE Select	NP_000303.1:p.Asp200Tyr
NM_001375602.1:c.781G>T	NP_001362531.1:p.Asp261Tyr
NM_001375603.1:c.763G>T	NP_001362532.1:p.Asp255Tyr
NM_001375604.1:c.661G>T	NP_001362533.1:p.Asp221Tyr
NM_001375605.1:c.700G>T	NP_001362534.1:p.Asp234Tyr
NM_001375606.1:c.766G>T	NP_001362535.1:p.Asp256Tyr
NM_001375607.1:c.784G>T	NP_001362536.1:p.Asp262Tyr
NM_001375608.1:c.541G>T	NP_001362537.1:p.Asp181Tyr
NM_001375609.1:c.574G>T	NP_001362538.1:p.Asp192Tyr
NM_001375610.1:c.592G>T	NP_001362539.1:p.Asp198Tyr
NM_001375611.1:c.598G>T	NP_001362540.1:p.Asp200Tyr
NM_001375613.1:c.598G>T	NP_001362542.1:p.Asp200Tyr