Canonical Allele Identifier: CA339958391

Gene: P3H1

Linked Data

• ClinVar Variation Id: 565337
• ClinVar RCV Id: RCV000684875
• dbSNP Id: rs118203996
• gnomAD v4: 1-42755616-G-C
• MyVariant Identifiers: chr1:g.43221287G>C (hg19) ; chr1:g.42755616G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42755616G>C , CM000663.2:g.42755616G>C	GRCh38
NC_000001.10:g.43221287G>C , CM000663.1:g.43221287G>C	GRCh37
NC_000001.9:g.42993874G>C	NCBI36
NG_008123.1:g.16469C>G , LRG_5:g.16469C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000296388.10:c.1102C>G MANE Select	ENSP00000296388.5:p.Arg368Gly
ENST00000236040.8:c.1102C>G	ENSP00000236040.4:p.Arg368Gly
ENST00000296388.9:c.1102C>G	ENSP00000296388.5:p.Arg368Gly
ENST00000397054.7:c.1102C>G	ENSP00000380245.3:p.Arg368Gly
ENST00000460031.5:n.1120C>G
ENST00000463465.1:n.591C>G
ENST00000495874.5:n.1208C>G
NM_001146289.1:c.1102C>G , LRG_5t2:c.1102C>G	NP_001139761.1:p.Arg368Gly
NM_001243246.1:c.1102C>G , LRG_5t3:c.1102C>G	NP_001230175.1:p.Arg368Gly
NM_022356.3:c.1102C>G , LRG_5t1:c.1102C>G	NP_071751.3:p.Arg368Gly
XM_005271110.2:c.94C>G	XP_005271167.1:p.Arg32Gly
XM_011541947.1:c.127C>G	XP_011540249.1:p.Arg43Gly
XM_011541948.1:c.127C>G	XP_011540250.1:p.Arg43Gly
XM_011541949.1:c.124C>G	XP_011540251.1:p.Arg42Gly
XR_946739.1:n.1159C>G
XM_017002051.2:c.127C>G	XP_016857540.1:p.Arg43Gly
XM_017002052.2:c.124C>G	XP_016857541.1:p.Arg42Gly
XR_946739.2:n.1159C>G
NM_022356.4:c.1102C>G MANE Select	NP_071751.3:p.Arg368Gly
NM_001146289.2:c.1102C>G	NP_001139761.1:p.Arg368Gly
NM_001243246.2:c.1102C>G	NP_001230175.1:p.Arg368Gly