Canonical Allele Identifier: CA801992

Gene: P3H1

Linked Data

• ClinVar Variation Id: 288132
• ClinVar RCV Id: RCV000385313 ; RCV000878543 ; RCV001705429 ; RCV002278311
• dbSNP Id: rs202234531
• ExAC: 1:43223463 G / A
• gnomAD v2: 1-43223463-G-A
• gnomAD v3: 1-42757792-G-A
• gnomAD v4: 1-42757792-G-A
• MyVariant Identifiers: chr1:g.43223463G>A (hg19) ; chr1:g.42757792G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42757792G>A , CM000663.2:g.42757792G>A	GRCh38
NC_000001.10:g.43223463G>A , CM000663.1:g.43223463G>A	GRCh37
NC_000001.9:g.42996050G>A	NCBI36
NG_008123.1:g.14293C>T , LRG_5:g.14293C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296388.10:c.1071C>T MANE Select	ENSP00000296388.5:p.Gly357=
ENST00000236040.8:c.1071C>T	ENSP00000236040.4:p.Gly357=
ENST00000296388.9:c.1071C>T	ENSP00000296388.5:p.Gly357=
ENST00000397054.7:c.1071C>T	ENSP00000380245.3:p.Gly357=
ENST00000460031.5:n.1089C>T
ENST00000463465.1:n.560C>T
ENST00000495874.5:n.1122C>T
NM_001146289.1:c.1071C>T , LRG_5t2:c.1071C>T	NP_001139761.1:p.Gly357=
NM_001243246.1:c.1071C>T , LRG_5t3:c.1071C>T	NP_001230175.1:p.Gly357=
NM_022356.3:c.1071C>T , LRG_5t1:c.1071C>T	NP_071751.3:p.Gly357=
XM_005271110.2:c.63C>T	XP_005271167.1:p.Gly21=
XM_011541947.1:c.41C>T	XP_011540249.1:p.Ala14Val
XM_011541948.1:c.41C>T	XP_011540250.1:p.Ala14Val
XM_011541949.1:c.41C>T	XP_011540251.1:p.Ala14Val
XR_946739.1:n.1128C>T
XM_017002051.2:c.41C>T	XP_016857540.1:p.Ala14Val
XM_017002052.2:c.41C>T	XP_016857541.1:p.Ala14Val
XR_946739.2:n.1128C>T
NM_022356.4:c.1071C>T MANE Select	NP_071751.3:p.Gly357=
NM_001146289.2:c.1071C>T	NP_001139761.1:p.Gly357=
NM_001243246.2:c.1071C>T	NP_001230175.1:p.Gly357=