Canonical Allele Identifier: CA802094

Gene: P3H1

Linked Data

• ClinVar Variation Id: 468988
• ClinVar RCV Id: RCV000532202 ; RCV000605499 ; RCV001096110
• dbSNP Id: rs149113630
• ExAC: 1:43224987 C / T
• gnomAD v2: 1-43224987-C-T
• gnomAD v3: 1-42759316-C-T
• gnomAD v4: 1-42759316-C-T
• MyVariant Identifiers: chr1:g.43224987C>T (hg19) ; chr1:g.42759316C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42759316C>T , CM000663.2:g.42759316C>T	GRCh38
NC_000001.10:g.43224987C>T , CM000663.1:g.43224987C>T	GRCh37
NC_000001.9:g.42997574C>T	NCBI36
NG_008123.1:g.12769G>A , LRG_5:g.12769G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296388.10:c.693G>A MANE Select	ENSP00000296388.5:p.Ala231=
ENST00000236040.8:c.693G>A	ENSP00000236040.4:p.Ala231=
ENST00000296388.9:c.693G>A	ENSP00000296388.5:p.Ala231=
ENST00000372526.2:c.564G>A	ENSP00000361604.2:p.Ala188=
ENST00000397054.7:c.693G>A	ENSP00000380245.3:p.Ala231=
ENST00000460031.5:n.711G>A
ENST00000463465.1:n.159G>A
ENST00000495874.5:n.744G>A
NM_001146289.1:c.693G>A , LRG_5t2:c.693G>A	NP_001139761.1:p.Ala231=
NM_001243246.1:c.693G>A , LRG_5t3:c.693G>A	NP_001230175.1:p.Ala231=
NM_022356.3:c.693G>A , LRG_5t1:c.693G>A	NP_071751.3:p.Ala231=
XM_005271110.2:c.-316G>A	XP_005271167.1:n.-316G>A
XM_011541947.1:c.-338G>A	XP_011540249.1:n.-338G>A
XM_011541948.1:c.-338G>A	XP_011540250.1:n.-338G>A
XM_011541949.1:c.-338G>A	XP_011540251.1:n.-338G>A
XR_946739.1:n.750G>A
XM_017002051.2:c.-338G>A	XP_016857540.1:n.-338G>A
XM_017002052.2:c.-338G>A	XP_016857541.1:n.-338G>A
XR_946739.2:n.750G>A
NM_022356.4:c.693G>A MANE Select	NP_071751.3:p.Ala231=
NM_001146289.2:c.693G>A	NP_001139761.1:p.Ala231=
NM_001243246.2:c.693G>A	NP_001230175.1:p.Ala231=