Canonical Allele Identifier: CA801996

Gene: P3H1

Linked Data

• ClinVar Variation Id: 379444
• ClinVar RCV Id: RCV000443398 ; RCV000532565 ; RCV001101548
• dbSNP Id: rs6700677
• ExAC: 1:43223489 C / T
• gnomAD v2: 1-43223489-C-T
• gnomAD v3: 1-42757818-C-T
• gnomAD v4: 1-42757818-C-T
• MyVariant Identifiers: chr1:g.43223489C>T (hg19) ; chr1:g.42757818C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42757818C>T , CM000663.2:g.42757818C>T	GRCh38
NC_000001.10:g.43223489C>T , CM000663.1:g.43223489C>T	GRCh37
NC_000001.9:g.42996076C>T	NCBI36
NG_008123.1:g.14267G>A , LRG_5:g.14267G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296388.10:c.1045G>A MANE Select	ENSP00000296388.5:p.Gly349Arg
ENST00000236040.8:c.1045G>A	ENSP00000236040.4:p.Gly349Arg
ENST00000296388.9:c.1045G>A	ENSP00000296388.5:p.Gly349Arg
ENST00000397054.7:c.1045G>A	ENSP00000380245.3:p.Gly349Arg
ENST00000460031.5:n.1063G>A
ENST00000463465.1:n.534G>A
ENST00000495874.5:n.1096G>A
NM_001146289.1:c.1045G>A , LRG_5t2:c.1045G>A	NP_001139761.1:p.Gly349Arg
NM_001243246.1:c.1045G>A , LRG_5t3:c.1045G>A	NP_001230175.1:p.Gly349Arg
NM_022356.3:c.1045G>A , LRG_5t1:c.1045G>A	NP_071751.3:p.Gly349Arg
XM_005271110.2:c.37G>A	XP_005271167.1:p.Gly13Arg
XM_011541947.1:c.15G>A	XP_011540249.1:p.Leu5=
XM_011541948.1:c.15G>A	XP_011540250.1:p.Leu5=
XM_011541949.1:c.15G>A	XP_011540251.1:p.Leu5=
XR_946739.1:n.1102G>A
XM_017002051.2:c.15G>A	XP_016857540.1:p.Leu5=
XM_017002052.2:c.15G>A	XP_016857541.1:p.Leu5=
XR_946739.2:n.1102G>A
NM_022356.4:c.1045G>A MANE Select	NP_071751.3:p.Gly349Arg
NM_001146289.2:c.1045G>A	NP_001139761.1:p.Gly349Arg
NM_001243246.2:c.1045G>A	NP_001230175.1:p.Gly349Arg